Variant report

Variant	rs56047795
Chromosome Location	chr11:85338798-85338799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:122)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr11:85338779-85339903	K562	blood:	n/a	chr11:85339431-85339440 chr11:85339185-85339199
2	CHD2	chr11:85338562-85339982	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:85338780-85339908	NB4	blood:	n/a	n/a
4	POLR2A	chr11:85338761-85339973	MCF-7	breast:	n/a	n/a
5	REST	chr11:85338169-85340260	H1-neurons	neurons:	n/a	chr11:85339311-85339324
6	MXI1	chr11:85337986-85341424	SK-N-SH	brain:	n/a	n/a
7	MAX	chr11:85338342-85340541	Hela-S3	cervix:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
8	MAX	chr11:85338464-85340578	NB4	blood:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
9	POLR2A	chr11:85338461-85340158	HepG2	liver:	n/a	n/a
10	SIN3A	chr11:85338244-85340547	H1-hESC	embryonic stem cell:	n/a	chr11:85338982-85338991 chr11:85339543-85339556
11	POLR2A	chr11:85338715-85340154	PANC-1	pancreas:	n/a	n/a
12	SMARCC1	chr11:85338279-85340065	Hela-S3	cervix:	n/a	n/a
13	MAZ	chr11:85337895-85340363	IMR90	lung:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
14	POLR2A	chr11:85338627-85340139	GM19099	blood:	n/a	n/a
15	YY1	chr11:85338729-85340000	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:85338230-85340287	H1-hESC	embryonic stem cell:	n/a	n/a
17	HCFC1	chr11:85338075-85341066	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr11:85338485-85339033	K562	blood:	n/a	n/a
19	MYC	chr11:85338682-85340660	NB4	blood:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
20	CTCF	chr11:85338660-85338810	Caco-2	colon:	n/a	n/a
21	POLR2A	chr11:85338725-85340303	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr11:85338638-85340101	Raji	blood:	n/a	n/a
23	RAD21	chr11:85338752-85339712	H1-hESC	embryonic stem cell:	n/a	chr11:85339301-85339314
24	MXI1	chr11:85338116-85340634	IMR90	lung:	n/a	n/a
25	POLR2A	chr11:85338776-85340204	Hela-S3	cervix:	n/a	n/a
26	RCOR1	chr11:85338652-85340214	K562	blood:	n/a	n/a
27	POLR2A	chr11:85338513-85340109	ProgFib	skin:	n/a	n/a
28	RELA	chr11:85338518-85340059	GM15510	blood:	n/a	n/a
29	RCOR1	chr11:85338375-85338867	Hela-S3	cervix:	n/a	n/a
30	SIN3AK20	chr11:85338175-85340321	MCF-7	breast:	n/a	n/a
31	SIN3AK20	chr11:85338769-85339839	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr11:85338687-85338846	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr11:85338791-85340294	SK-N-MC	brain:	n/a	n/a
34	YY1	chr11:85338562-85340258	SK-N-SH	brain:	n/a	n/a
35	MAX	chr11:85338294-85340489	MCF-7	breast:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
36	POLR2A	chr11:85338718-85339919	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:85338771-85338821	HepG2	liver:	n/a
2	chr11:85338771-85338821	HMEC	breast:	n/a
3	chr11:85338795-85338845	A549	lung:	n/a
4	chr11:85338795-85338845	BJ	skin:	n/a
5	chr11:85338771-85338821	HIPEpiC	eye:	n/a
6	chr11:85338771-85338821	T-47D	breast:	n/a
7	chr11:85338771-85338821	GM12892	blood:	n/a
8	chr11:85338795-85338845	BE2_C	brain:	n/a
9	chr11:85338771-85338821	NHBE	bronchial:	n/a
10	chr11:85338771-85338821	GM19239	blood:	n/a
11	chr11:85338771-85338821	BE2_C	brain:	n/a
12	chr11:85338795-85338845	PrEC	prostate:	n/a
13	chr11:85338771-85338821	LNCaP	prostate:	n/a
14	chr11:85338795-85338845	IMR90	lung:	fetal
15	chr11:85338771-85338821	CMK	blood:	n/a
16	chr11:85338795-85338845	SAEC	small airway:	n/a
17	chr11:85338795-85338845	PFSK-1	brain:	n/a
18	chr11:85338795-85338845	MCF10A-Er-Src	breast:	n/a
19	chr11:85338795-85338845	AG04450	lung:	fetal
20	chr11:85338771-85338821	Caco-2	colon:	n/a
21	chr11:85338771-85338821	ECC-1	luminal epithelium:	n/a
22	chr11:85338795-85338845	HEEpiC	esophagus:	n/a
23	chr11:85338771-85338821	SK-N-SH	brain:	n/a
24	chr11:85338771-85338821	HCM	heart:	n/a
25	chr11:85338795-85338845	HCF	heart:	n/a
26	chr11:85338771-85338821	A549	lung:	n/a
27	chr11:85338771-85338821	NHDF-neo	bronchial:	n/a
28	chr11:85338795-85338845	SK-N-SH	brain:	n/a
29	chr11:85338771-85338821	Hela-S3	cervix:	n/a
30	chr11:85338795-85338845	PANC-1	pancreas:	n/a
31	chr11:85338795-85338845	SKMC	muscle:	n/a
32	chr11:85338771-85338821	AG09309	skin:	n/a
33	chr11:85338771-85338821	HUVEC	blood vessel:	n/a
34	chr11:85338771-85338821	AG10803	skin:	n/a
35	chr11:85338771-85338821	HNPCEpiC	eye:	n/a
36	chr11:85338771-85338821	AG04450	lung:	fetal
37	chr11:85338771-85338821	MCF-7	breast:	n/a
38	chr11:85338771-85338821	HAEpiC	amniotic membrane:	n/a
39	chr11:85338795-85338845	NH-A	brain:	n/a
40	chr11:85338771-85338821	HEK293	kidney:	embryo
41	chr11:85338771-85338821	HEEpiC	esophagus:	n/a
42	chr11:85338795-85338845	K562	blood:	n/a
43	chr11:85338795-85338845	GM12878	blood:	n/a
44	chr11:85338771-85338821	HPAEpiC	pulmonary alveolar:	n/a
45	chr11:85338795-85338845	NB4	blood:	n/a
46	chr11:85338771-85338821	U87	brain:	n/a
47	chr11:85338771-85338821	ovcar-3	ovarian:	n/a
48	chr11:85338771-85338821	HL-60	blood:	n/a
49	chr11:85338771-85338821	NB4	blood:	n/a
50	chr11:85338771-85338821	HRCEpiC	kidney:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85338344..85340985-chr11:85434050..85436369,2	K562	blood:
2	chr11:85335097..85341629-chr11:85372332..85377145,15	MCF-7	breast:
3	chr11:85338390..85343522-chr11:85356567..85360273,9	MCF-7	breast:
4	chr11:85337127..85343160-chr11:85357064..85364111,20	MCF-7	breast:
5	chr11:85337740..85341959-chr11:85373645..85377756,6	MCF-7	breast:
6	chr11:85338441..85340727-chr11:85396726..85399566,2	MCF-7	breast:
7	chr11:85337637..85339242-chr11:85365920..85368158,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM126B	TF binding region
DLG2	TF binding region
DLG2	CpG island
TMEM126B	CpG island
ENSG00000137501	Chromatin interaction
ENSG00000137504	Chromatin interaction
ENSG00000179071	Chromatin interaction
ENSG00000171202	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10501593	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12099145	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17148234	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17148242	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17148255	0.83[AMR][1000 genomes]
rs17148285	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56687664	0.85[AMR][1000 genomes]
rs56838978	0.85[AMR][1000 genomes]
rs57309067	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57313830	0.85[AMR][1000 genomes]
rs57361884	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60192818	0.85[AMR][1000 genomes]
rs60734322	0.85[AMR][1000 genomes]
rs60865542	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61169921	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61180955	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61198962	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61465434	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6592254	0.85[AMR][1000 genomes]
rs6592256	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6592257	0.85[AMR][1000 genomes]
rs7103387	0.83[AMR][1000 genomes]
rs7116532	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7116553	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7122987	0.85[AMR][1000 genomes]
rs744173	0.85[AMR][1000 genomes]
rs7938991	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7942218	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7949114	0.85[AMR][1000 genomes]
rs7952219	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 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	chr11:85336000-85341000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr11:85336200-85339000	Active TSS	Right Atrium	heart
3	chr11:85336200-85340600	Active TSS	Ovary	ovary
4	chr11:85336200-85341400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr11:85336400-85340400	Active TSS	Aorta	Aorta
6	chr11:85337000-85340200	Active TSS	Stomach Smooth Muscle	stomach
7	chr11:85337200-85340800	Active TSS	Right Ventricle	heart
8	chr11:85337200-85341000	Active TSS	NHLF	lung
9	chr11:85337400-85341000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr11:85337600-85338800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:85337600-85339000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:85337600-85339600	Active TSS	Brain Germinal Matrix	brain
13	chr11:85337600-85340400	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr11:85337600-85340400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:85337600-85340400	Active TSS	Fetal Heart	heart
16	chr11:85337600-85340400	Active TSS	Fetal Kidney	kidney
17	chr11:85337600-85340400	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr11:85337600-85340400	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr11:85337600-85340600	Active TSS	H9 Cell Line	embryonic stem cell
20	chr11:85337600-85340800	Active TSS	Colonic Mucosa	Colon
21	chr11:85337600-85341000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:85337800-85340000	Active TSS	Brain Cingulate Gyrus	brain
23	chr11:85337800-85340000	Active TSS	Fetal Lung	lung
24	chr11:85337800-85340200	Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr11:85337800-85340400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:85337800-85340400	Active TSS	Brain Angular Gyrus	brain
27	chr11:85337800-85340400	Active TSS	Colon Smooth Muscle	Colon
28	chr11:85337800-85340400	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr11:85337800-85340600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr11:85337800-85340600	Active TSS	Fetal Stomach	stomach
31	chr11:85337800-85340600	Active TSS	Left Ventricle	heart
32	chr11:85337800-85340600	Active TSS	Psoas Muscle	Psoas
33	chr11:85337800-85340600	Active TSS	NHDF-Ad	bronchial
34	chr11:85337800-85340800	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr11:85337800-85341000	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr11:85337800-85341000	Active TSS	H1 Cell Line	embryonic stem cell
37	chr11:85337800-85341000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:85337800-85341200	Active TSS	Rectal Smooth Muscle	rectum
39	chr11:85338000-85338800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr11:85338000-85338800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:85338000-85338800	Flanking Active TSS	NH-A	brain
42	chr11:85338000-85339200	Flanking Active TSS	Liver	Liver
43	chr11:85338000-85339200	Flanking Active TSS	HMEC	breast
44	chr11:85338000-85339200	Flanking Active TSS	NHEK	skin
45	chr11:85338000-85340000	Active TSS	Osteobl	bone
46	chr11:85338000-85340200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:85338000-85340400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:85338000-85340400	Active TSS	HSMMtube	muscle
49	chr11:85338000-85340600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:85338000-85340600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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