Variant report

Variant	rs11983460
Chromosome Location	chr7:102389233-102389234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:315)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:102389205-102390074	MCF-7	breast:	n/a	n/a
2	JUND	chr7:102389195-102389748	HepG2	liver:	n/a	chr7:102389211-102389220
3	POLR2A	chr7:102389173-102390218	Hela-S3	cervix:	n/a	n/a
4	MAFK	chr7:102389037-102389501	Hela-S3	cervix:	n/a	n/a
5	ETS1	chr7:102388980-102389666	A549	lung:	n/a	n/a
6	BRCA1	chr7:102389094-102389528	Hela-S3	cervix:	n/a	n/a
7	WRNIP1	chr7:102389028-102389371	GM12878	blood:	n/a	n/a
8	SP2	chr7:102389101-102389379	K562	blood:	n/a	chr7:102389234-102389249 chr7:102389211-102389221
9	TAF1	chr7:102389187-102389561	SK-N-SH	brain:	n/a	n/a
10	ZKSCAN1	chr7:102389210-102389444	Hela-S3	cervix:	n/a	n/a
11	BHLHE40	chr7:102388971-102389373	HepG2	liver:	n/a	n/a
12	MXI1	chr7:102388935-102389666	Hela-S3	cervix:	n/a	n/a
13	MAX	chr7:102388938-102389439	ECC-1	luminal epithelium:	n/a	n/a
14	E2F6	chr7:102389067-102389425	K562	blood:	n/a	n/a
15	USF2	chr7:102389036-102389395	GM12878	blood:	n/a	n/a
16	SP1	chr7:102388974-102389781	HepG2	liver:	n/a	chr7:102389202-102389223
17	NR2F2	chr7:102388675-102389905	K562	blood:	n/a	chr7:102389302-102389317
18	SIX5	chr7:102389124-102389523	K562	blood:	n/a	chr7:102389339-102389353
19	ATF1	chr7:102389031-102389497	K562	blood:	n/a	n/a
20	IRF1	chr7:102389074-102389520	K562	blood:	n/a	chr7:102389250-102389259
21	SP1	chr7:102388858-102389598	HCT-116	colon:	n/a	chr7:102389202-102389223
22	E2F6	chr7:102388944-102389471	H1-hESC	embryonic stem cell:	n/a	n/a
23	ETS1	chr7:102389037-102389876	K562	blood:	n/a	n/a
24	SP1	chr7:102388930-102390034	GM12878	blood:	n/a	chr7:102389202-102389223
25	POLR2A	chr7:102389209-102390012	Gliobla	brain:	n/a	n/a
26	GTF2F1	chr7:102389069-102389522	Hela-S3	cervix:	n/a	n/a
27	MAX	chr7:102388973-102389635	GM12878	blood:	n/a	n/a
28	YY1	chr7:102389182-102389486	GM12892	blood:	n/a	n/a
29	EGR1	chr7:102389068-102389548	K562	blood:	n/a	chr7:102389328-102389352
30	POLR2A	chr7:102389089-102389934	K562	blood:	n/a	n/a
31	TBP	chr7:102389105-102389531	GM12878	blood:	n/a	n/a
32	ZNF143	chr7:102388986-102389672	GM12878	blood:	n/a	chr7:102389381-102389399 chr7:102389333-102389351 chr7:102389328-102389347
33	ELF1	chr7:102388960-102389511	GM12878	blood:	n/a	n/a
34	CREB1	chr7:102389070-102389450	A549	lung:	n/a	n/a
35	RCOR1	chr7:102389084-102389542	Hela-S3	cervix:	n/a	n/a
36	SIN3AK20	chr7:102388939-102389857	PANC-1	pancreas:	n/a	n/a
37	ZNF143	chr7:102388994-102389630	K562	blood:	n/a	chr7:102389381-102389399 chr7:102389333-102389351 chr7:102389328-102389347
38	CREB1	chr7:102389054-102389582	A549	lung:	n/a	n/a
39	POLR2A	chr7:102389205-102389790	PANC-1	pancreas:	n/a	n/a
40	NFIC	chr7:102388993-102389780	GM12878	blood:	n/a	n/a
41	PML	chr7:102388964-102389639	GM12878	blood:	n/a	n/a
42	SP1	chr7:102388931-102389569	H1-hESC	embryonic stem cell:	n/a	chr7:102389202-102389223
43	CEBPB	chr7:102388891-102389638	K562	blood:	n/a	n/a
44	IRF1	chr7:102389093-102389510	K562	blood:	n/a	chr7:102389250-102389259
45	POLR2A	chr7:102389016-102389804	PANC-1	pancreas:	n/a	n/a
46	POLR2A	chr7:102389165-102389776	SK-N-SH	brain:	n/a	n/a
47	BHLHE40	chr7:102388916-102389522	GM12878	blood:	n/a	n/a
48	MXI1	chr7:102388824-102389902	IMR90	lung:	n/a	n/a
49	NRF1	chr7:102388919-102389676	SK-N-SH	brain:	n/a	n/a
50	MAX	chr7:102388955-102389577	SK-N-SH	brain:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:102389191-102389241	GM06990	blood:	n/a
2	chr7:102389205-102389255	ECC-1	luminal epithelium:	n/a
3	chr7:102389191-102389241	HUVEC	blood vessel:	n/a
4	chr7:102389191-102389241	AG10803	skin:	n/a
5	chr7:102389191-102389241	HCF	heart:	n/a
6	chr7:102389205-102389255	AG10803	skin:	n/a
7	chr7:102389205-102389255	SAEC	small airway:	n/a
8	chr7:102389191-102389241	MCF10A-Er-Src	breast:	n/a
9	chr7:102389205-102389255	BJ	skin:	n/a
10	chr7:102389205-102389255	CMK	blood:	n/a
11	chr7:102389205-102389255	PFSK-1	brain:	n/a
12	chr7:102389205-102389255	GM12892	blood:	n/a
13	chr7:102389191-102389241	HAEpiC	amniotic membrane:	n/a
14	chr7:102389191-102389241	NB4	blood:	n/a
15	chr7:102389205-102389255	HIPEpiC	eye:	n/a
16	chr7:102389191-102389241	NHBE	bronchial:	n/a
17	chr7:102389191-102389241	AG04450	lung:	fetal
18	chr7:102389191-102389241	GM19239	blood:	n/a
19	chr7:102389191-102389241	K562	blood:	n/a
20	chr7:102389191-102389241	ProgFib	skin:	n/a
21	chr7:102389191-102389241	NT2-D1	testis:	n/a
22	chr7:102389205-102389255	NT2-D1	testis:	n/a
23	chr7:102389205-102389255	RPTEC	kidney:	n/a
24	chr7:102389191-102389241	IMR90	lung:	fetal
25	chr7:102389191-102389241	SK-N-SH_RA	brain:	n/a
26	chr7:102389191-102389241	CMK	blood:	n/a
27	chr7:102389205-102389255	HPAEpiC	pulmonary alveolar:	n/a
28	chr7:102389191-102389241	PFSK-1	brain:	n/a
29	chr7:102389205-102389255	NHDF-neo	bronchial:	n/a
30	chr7:102389191-102389241	RPTEC	kidney:	n/a
31	chr7:102389191-102389241	T-47D	breast:	n/a
32	chr7:102389191-102389241	Hepatocyte	liver:	n/a
33	chr7:102389205-102389255	HEEpiC	esophagus:	n/a
34	chr7:102389191-102389241	HNPCEpiC	eye:	n/a
35	chr7:102389205-102389255	AG09319	gingival:	n/a
36	chr7:102389191-102389241	HMEC	breast:	n/a
37	chr7:102389205-102389255	HUVEC	blood vessel:	n/a
38	chr7:102389205-102389255	HCPEpiC	choroid plexus:	n/a
39	chr7:102389191-102389241	SAEC	small airway:	n/a
40	chr7:102389205-102389255	AG09309	skin:	n/a
41	chr7:102389191-102389241	PANC-1	pancreas:	n/a
42	chr7:102389205-102389255	ovcar-3	ovarian:	n/a
43	chr7:102389191-102389241	HepG2	liver:	n/a
44	chr7:102389205-102389255	AG04450	lung:	fetal
45	chr7:102389205-102389255	ProgFib	skin:	n/a
46	chr7:102389205-102389255	IMR90	lung:	fetal
47	chr7:102389205-102389255	HAEpiC	amniotic membrane:	n/a
48	chr7:102389191-102389241	HIPEpiC	eye:	n/a
49	chr7:102389205-102389255	Hela-S3	cervix:	n/a
50	chr7:102389205-102389255	GM06990	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:102387955..102390990-chr7:102714406..102717094,4	MCF-7	breast:
2	chr7:76751236..76751872-chr7:102389110..102389768,2	MCF-7	breast:
3	chr7:102389047..102390959-chr7:102788572..102791008,2	K562	blood:
4	chr7:102388357..102390801-chr7:102713734..102717426,3	K562	blood:

No data

Variant related genes	Relation type
FAM185A	TF binding region
FAM185A	CpG island
ENSG00000161040	Chromatin interaction
ENSG00000170632	Chromatin interaction
ENSG00000161048	Chromatin interaction
ENSG00000214439	Chromatin interaction
ENSG00000135205	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7779454	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv1828190	chr7:101966669-102439077	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv1025363	chr7:102072448-102471485	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv888845	chr7:102113909-102398479	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv471337	chr7:102114386-102418049	Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv471505	chr7:102114386-102418049	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv471534	chr7:102114386-102418049	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv471535	chr7:102114386-102418049	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv471540	chr7:102114386-102418049	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv1016419	chr7:102238120-102405421	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
12	nsv1029058	chr7:102238120-102406735	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
13	nsv1031471	chr7:102238120-102429404	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
14	nsv1034146	chr7:102288510-102402610	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
15	nsv1034233	chr7:102288510-102418702	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
16	nsv469620	chr7:102296392-102454063	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv482714	chr7:102296392-102454063	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv1033548	chr7:102316707-102402610	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
19	nsv888922	chr7:102322456-102398479	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
20	nsv966870	chr7:102332269-102395247	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
21	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
22	esv2761100	chr7:102335787-102481978	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
23	nsv1028732	chr7:102345949-102394073	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
24	nsv1023265	chr7:102347032-102406735	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
25	nsv1027415	chr7:102351847-102394073	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
26	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
27	nsv470382	chr7:102375663-102538515	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102388600-102390200	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr7:102388600-102390200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:102388600-102390400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:102388600-102390400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:102388600-102390600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr7:102388600-102390600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr7:102388600-102390600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:102388600-102390600	Active TSS	A549	lung
9	chr7:102388600-102390800	Active TSS	Brain Hippocampus Middle	brain
10	chr7:102388600-102391000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:102388800-102390000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:102388800-102390000	Active TSS	Brain Substantia Nigra	brain
13	chr7:102388800-102390200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr7:102388800-102390200	Active TSS	Muscle Satellite Cultured Cells	--
15	chr7:102388800-102390200	Active TSS	Brain Germinal Matrix	brain
16	chr7:102388800-102390200	Active TSS	Colonic Mucosa	Colon
17	chr7:102388800-102390200	Active TSS	Fetal Muscle Leg	muscle
18	chr7:102388800-102390200	Active TSS	Placenta	Placenta
19	chr7:102388800-102390400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr7:102388800-102390400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:102388800-102390400	Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr7:102388800-102390400	Active TSS	Fetal Intestine Large	intestine
23	chr7:102388800-102390400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr7:102388800-102390400	Active TSS	Fetal Lung	lung
25	chr7:102388800-102390400	Active TSS	Ovary	ovary
26	chr7:102388800-102390400	Active TSS	Psoas Muscle	Psoas
27	chr7:102388800-102390600	Active TSS	H9 Cell Line	embryonic stem cell
28	chr7:102388800-102390600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:102388800-102390600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:102388800-102390600	Active TSS	Stomach Smooth Muscle	stomach
31	chr7:102388800-102390600	Active TSS	NH-A	brain
32	chr7:102388800-102390800	Active TSS	H1 Cell Line	embryonic stem cell
33	chr7:102388800-102390800	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr7:102388800-102390800	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr7:102388800-102390800	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr7:102388800-102391000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:102388800-102391000	Active TSS	Fetal Brain Female	brain
38	chr7:102389000-102389600	Active TSS	Primary B cells from cord blood	blood
39	chr7:102389000-102389600	Active TSS	Fetal Heart	heart
40	chr7:102389000-102390000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:102389000-102390000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:102389000-102390000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:102389000-102390000	Active TSS	Placenta Amnion	Placenta Amnion
44	chr7:102389000-102390200	Active TSS	Colon Smooth Muscle	Colon
45	chr7:102389000-102390200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr7:102389000-102390400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:102389000-102390400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:102389000-102390400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:102389000-102390400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:102389000-102390400	Active TSS	Brain Cingulate Gyrus	brain

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