Variant report

Variant	rs557285823
Chromosome Location	chr7:98741824-98741825
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr7:98741506-98742199	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:98741706-98742163	GM12892	blood:	n/a	n/a
3	POLR2A	chr7:98741500-98742131	U87	brain:	n/a	n/a
4	IRF1	chr7:98741701-98742261	K562	blood:	n/a	n/a
5	TCF3	chr7:98741495-98742051	GM12878	blood:	n/a	n/a
6	YY1	chr7:98741170-98742036	K562	blood:	n/a	n/a
7	TAF1	chr7:98741618-98742169	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:98741789-98742156	GM12891	blood:	n/a	n/a
9	CHD2	chr7:98741514-98742227	GM12878	blood:	n/a	chr7:98741825-98741835 chr7:98741820-98741830
10	PML	chr7:98741746-98742350	K562	blood:	n/a	n/a
11	POLR2A	chr7:98741164-98742481	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr7:98741166-98742234	GM18505	blood:	n/a	n/a
13	EGR1	chr7:98739756-98741968	K562	blood:	n/a	chr7:98741097-98741111 chr7:98741663-98741677 chr7:98741253-98741266 chr7:98741154-98741168 chr7:98740176-98740189 chr7:98741694-98741708 chr7:98740176-98740189 chr7:98740038-98740047 chr7:98740175-98740190 chr7:98740181-98740191 chr7:98741718-98741732
14	TAF1	chr7:98741514-98741968	HepG2	liver:	n/a	n/a
15	MXI1	chr7:98741730-98742285	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:98740657-98742228	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr7:98741483-98742109	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr7:98740407-98742219	K562	blood:	n/a	n/a
19	SP1	chr7:98741762-98742045	GM12878	blood:	n/a	chr7:98741819-98741829 chr7:98741824-98741833 chr7:98741824-98741834 chr7:98741820-98741829 chr7:98741823-98741835 chr7:98741825-98741834 chr7:98741820-98741829 chr7:98741825-98741834 chr7:98741823-98741835 chr7:98741819-98741828
20	POLR2A	chr7:98741534-98742189	A549	lung:	n/a	n/a
21	POLR2A	chr7:98740916-98742336	NB4	blood:	n/a	n/a
22	EP300	chr7:98741759-98742362	K562	blood:	n/a	n/a
23	POLR2A	chr7:98741690-98742332	K562	blood:	n/a	n/a
24	MAX	chr7:98741601-98742186	ECC-1	luminal epithelium:	n/a	n/a
25	TCF12	chr7:98741423-98742241	ECC-1	luminal epithelium:	n/a	n/a
26	TAF1	chr7:98741773-98742187	H1-hESC	embryonic stem cell:	n/a	n/a
27	TAF1	chr7:98741312-98742091	HepG2	liver:	n/a	n/a
28	POLR2A	chr7:98741734-98742164	GM12892	blood:	n/a	n/a
29	MAX	chr7:98741701-98742321	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr7:98740999-98742321	GM12892	blood:	n/a	n/a
31	MAX	chr7:98741722-98742380	NB4	blood:	n/a	n/a
32	SIN3AK20	chr7:98739550-98742535	MCF-7	breast:	n/a	n/a
33	ZBTB7A	chr7:98741748-98742117	K562	blood:	n/a	n/a
34	POLR2A	chr7:98739280-98742241	IMR90	lung:	n/a	n/a
35	SIN3AK20	chr7:98741774-98741995	HepG2	liver:	n/a	n/a
36	MAX	chr7:98741636-98742239	A549	lung:	n/a	n/a
37	POLR2A	chr7:98741718-98742167	GM12891	blood:	n/a	n/a
38	CTCF	chr7:98741783-98742115	K562	blood:	n/a	n/a
39	TAF1	chr7:98741754-98742210	A549	lung:	n/a	n/a
40	MAX	chr7:98741750-98742143	GM12878	blood:	n/a	n/a
41	PML	chr7:98741775-98741920	GM12878	blood:	n/a	n/a
42	CREB1	chr7:98740370-98742338	HepG2	liver:	n/a	n/a
43	TCF12	chr7:98741724-98742300	A549	lung:	n/a	n/a
44	POLR2A	chr7:98741042-98742102	HepG2	liver:	n/a	n/a
45	CREB1	chr7:98741565-98742007	A549	lung:	n/a	n/a
46	POLR2A	chr7:98741344-98742366	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr7:98741469-98742100	A549	lung:	n/a	n/a
48	TAF1	chr7:98741657-98742148	PFSK-1	brain:	n/a	n/a
49	EGR1	chr7:98741655-98742132	GM12878	blood:	n/a	chr7:98741663-98741677 chr7:98741694-98741708 chr7:98741718-98741732
50	ETS1	chr7:98741743-98742140	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:98678288..98682057-chr7:98738982..98742511,4	MCF-7	breast:
2	chr10:126480012..126480539-chr7:98741134..98741832,2	Hela-S3	cervix:
3	chr7:98741779..98743305-chr7:98813050..98816035,2	MCF-7	breast:
4	chr7:98739614..98743126-chr7:98922770..98926033,5	MCF-7	breast:
5	chr7:98738526..98746153-chr7:98804876..98809686,18	MCF-7	breast:
6	chr7:98740498..98742801-chr7:98868578..98871943,3	MCF-7	breast:
7	chr7:98739484..98741856-chr7:99035435..99038061,2	K562	blood:
8	chr7:98740238..98742349-chr7:98859373..98862218,2	MCF-7	breast:
9	chr16:70557729..70558362-chr7:98741012..98741830,2	Hela-S3	cervix:
10	chr7:26240253..26241081-chr7:98741273..98742046,2	Hela-S3	cervix:

Variant related genes	Relation type
SMURF1	TF binding region
ENSG00000160917	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000203791	Chromatin interaction
ENSG00000258539	Chromatin interaction
ENSG00000241685	Chromatin interaction
ENSG00000122566	Chromatin interaction
ENSG00000002079	Chromatin interaction
ENSG00000198742	Chromatin interaction
ENSG00000122565	Chromatin interaction
ENSG00000185467	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024529	chr7:98194830-98793518	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539036	chr7:98194830-98793518	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2755119	chr7:98721885-98800145	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	esv1792421	chr7:98737119-98752081	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
5	esv3370738	chr7:98739216-98743614	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
6	esv3348105	chr7:98740041-98742664	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
7	esv3341751	chr7:98740041-98742989	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98738600-98742000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:98738600-98742000	Active TSS	Brain Hippocampus Middle	brain
3	chr7:98738600-98742400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:98738600-98742400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:98738600-98742400	Active TSS	Aorta	Aorta
6	chr7:98738600-98742400	Active TSS	Ovary	ovary
7	chr7:98738800-98742000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr7:98738800-98742000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:98738800-98742000	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr7:98738800-98742000	Active TSS	HMEC	breast
11	chr7:98738800-98742000	Active TSS	HSMM	muscle
12	chr7:98738800-98742000	Active TSS	HSMMtube	muscle
13	chr7:98738800-98742000	Active TSS	NHDF-Ad	bronchial
14	chr7:98738800-98742200	Active TSS	NHLF	lung
15	chr7:98738800-98742400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr7:98738800-98742600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:98739000-98742000	Active TSS	NHEK	skin
18	chr7:98739000-98742200	Active TSS	Brain Anterior Caudate	brain
19	chr7:98739000-98742400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr7:98739000-98742600	Active TSS	Rectal Smooth Muscle	rectum
21	chr7:98739200-98742000	Active TSS	HepG2	liver
22	chr7:98739200-98742200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:98739200-98742200	Active TSS	Brain Angular Gyrus	brain
24	chr7:98739200-98742200	Active TSS	Colonic Mucosa	Colon
25	chr7:98739200-98743200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:98739400-98742000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:98739400-98742200	Active TSS	Brain Cingulate Gyrus	brain
28	chr7:98739400-98742400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:98739400-98742400	Active TSS	Esophagus	oesophagus
30	chr7:98739400-98742400	Active TSS	Right Ventricle	heart
31	chr7:98739400-98742600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr7:98739600-98742000	Active TSS	Muscle Satellite Cultured Cells	--
33	chr7:98739600-98742000	Active TSS	Osteobl	bone
34	chr7:98739600-98742200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:98739600-98742200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:98739600-98742200	Active TSS	Brain Substantia Nigra	brain
37	chr7:98739600-98742400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:98739600-98742400	Active TSS	Colon Smooth Muscle	Colon
39	chr7:98739600-98742600	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr7:98739600-98742600	Active TSS	Fetal Intestine Large	intestine
41	chr7:98739600-98742600	Active TSS	Fetal Kidney	kidney
42	chr7:98739800-98742000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:98739800-98742200	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr7:98739800-98742200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:98739800-98742200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:98739800-98742200	Active TSS	Gastric	stomach
47	chr7:98739800-98742600	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr7:98740000-98742000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:98740000-98742000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:98740000-98742000	Active TSS	Rectal Mucosa Donor 29	rectum

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