Variant report

Variant	rs17163803
Chromosome Location	chr7:10980457-10980458
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:242)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:242 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr7:10979257-10980483	K562	blood:	n/a	n/a
2	POLR2A	chr7:10979257-10980525	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr7:10980015-10980487	GM12878	blood:	n/a	n/a
4	MAX	chr7:10979475-10980532	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr7:10979160-10980722	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr7:10978837-10980899	SK-N-MC	brain:	n/a	n/a
7	TAF1	chr7:10979313-10980461	GM12878	blood:	n/a	n/a
8	RELA	chr7:10979154-10980479	GM19099	blood:	n/a	n/a
9	POLR2A	chr7:10979538-10980507	K562	blood:	n/a	n/a
10	BHLHE40	chr7:10979238-10981040	K562	blood:	n/a	n/a
11	ZMIZ1	chr7:10979541-10980691	K562	blood:	n/a	n/a
12	POLR2A	chr7:10979193-10980950	GM12892	blood:	n/a	n/a
13	POLR2A	chr7:10979124-10980511	K562	blood:	n/a	n/a
14	IRF1	chr7:10979435-10980469	K562	blood:	n/a	n/a
15	CEBPB	chr7:10980143-10980487	K562	blood:	n/a	n/a
16	PML	chr7:10979991-10980481	MCF-7	breast:	n/a	n/a
17	BHLHE40	chr7:10979553-10980980	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:10979357-10980544	A549	lung:	n/a	n/a
19	TBP	chr7:10979111-10980465	HepG2	liver:	n/a	n/a
20	SIN3A	chr7:10978945-10980461	H1-hESC	embryonic stem cell:	n/a	n/a
21	ARID3A	chr7:10979327-10980859	HepG2	liver:	n/a	n/a
22	MAZ	chr7:10979433-10980524	HepG2	liver:	n/a	n/a
23	TFAP2C	chr7:10979429-10980561	Hela-S3	cervix:	n/a	n/a
24	RCOR1	chr7:10979135-10980764	K562	blood:	n/a	n/a
25	MAZ	chr7:10979273-10980678	IMR90	lung:	n/a	chr7:10980620-10980630
26	POLR2A	chr7:10979039-10980471	K562	blood:	n/a	n/a
27	EP300	chr7:10979636-10980849	GM12878	blood:	n/a	chr7:10980110-10980126 chr7:10980206-10980222
28	HCFC1	chr7:10979371-10980515	K562	blood:	n/a	n/a
29	FOXM1	chr7:10979019-10980712	GM12878	blood:	n/a	n/a
30	MYBL2	chr7:10979031-10980498	HepG2	liver:	n/a	n/a
31	POLR2A	chr7:10978928-10980584	Hela-S3	cervix:	n/a	n/a
32	MAX	chr7:10979035-10980484	Hela-S3	cervix:	n/a	n/a
33	CBX3	chr7:10979335-10980544	K562	blood:	n/a	n/a
34	POLR2A	chr7:10979345-10980506	MCF-7	breast:	n/a	n/a
35	SMARCC2	chr7:10979022-10980952	Hela-S3	cervix:	n/a	n/a
36	MAZ	chr7:10979429-10980930	GM12878	blood:	n/a	chr7:10980620-10980630
37	HEY1	chr7:10979221-10980520	HepG2	liver:	n/a	n/a
38	RCOR1	chr7:10979549-10980489	HepG2	liver:	n/a	n/a
39	RELA	chr7:10979150-10980546	GM18505	blood:	n/a	n/a
40	POLR2A	chr7:10980098-10980497	GM12891	blood:	n/a	n/a
41	POLR2A	chr7:10979108-10980523	H1-neurons	neurons:	n/a	n/a
42	CTCF	chr7:10979553-10980642	K562	blood:	n/a	n/a
43	MTA3	chr7:10979479-10980587	GM12878	blood:	n/a	n/a
44	POLR2A	chr7:10979135-10980564	HL-60	blood:	n/a	n/a
45	IRF1	chr7:10979333-10980748	K562	blood:	n/a	n/a
46	POLR2A	chr7:10979252-10980548	H1-hESC	embryonic stem cell:	n/a	n/a
47	TAF1	chr7:10979172-10980503	A549	lung:	n/a	n/a
48	POLR2A	chr7:10979390-10980531	ProgFib	skin:	n/a	n/a
49	POLR2A	chr7:10979262-10980541	PFSK-1	brain:	n/a	n/a
50	CUX1	chr7:10979469-10981169	K562	blood:	n/a	chr7:10979960-10979974

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:10978101..10982429-chr7:11011509..11017731,20	K562	blood:
2	chr7:10979872..10980668-chr7:40173740..40174309,2	Hela-S3	cervix:
3	chr7:10976808..10978708-chr7:10978899..10981503,2	MCF-7	breast:
4	chr3:119182037..119182735-chr7:10979846..10980807,2	Hela-S3	cervix:
5	chr7:10975906..10982429-chr7:11007978..11018673,26	K562	blood:
6	chr7:10977305..10982144-chr7:11011875..11016071,10	MCF-7	breast:
7	chr7:10978242..10981238-chr7:11011671..11015550,7	MCF-7	breast:
8	chr7:10978313..10981160-chr7:11099563..11101890,2	K562	blood:
9	chr6:10418476..10419221-chr7:10980171..10980924,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
NDUFA4	TF binding region
ENSG00000189043	Chromatin interaction
ENSG00000168303	Chromatin interaction
ENSG00000176142	Chromatin interaction
ENSG00000106443	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10257220	0.86[ASN][1000 genomes]
rs10487898	0.86[ASN][1000 genomes]
rs12666576	0.84[ASN][1000 genomes]
rs12669769	0.90[ASN][1000 genomes]
rs12670220	0.86[ASN][1000 genomes]
rs12671481	0.90[ASN][1000 genomes]
rs12671644	0.90[ASN][1000 genomes]
rs12672069	0.86[ASN][1000 genomes]
rs12672128	0.86[ASN][1000 genomes]
rs12674325	0.86[ASN][1000 genomes]
rs16876772	0.92[ASN][1000 genomes]
rs16876779	0.86[ASN][1000 genomes]
rs17149825	0.92[ASN][1000 genomes]
rs17149830	0.92[ASN][1000 genomes]
rs17149834	0.86[ASN][1000 genomes]
rs17149838	0.86[ASN][1000 genomes]
rs17163801	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs17163823	0.80[ASN][1000 genomes]
rs17163857	0.92[ASN][1000 genomes]
rs17163872	0.92[ASN][1000 genomes]
rs17163880	0.92[ASN][1000 genomes]
rs17163892	0.94[ASN][1000 genomes]
rs17163894	0.90[ASN][1000 genomes]
rs17163895	0.90[ASN][1000 genomes]
rs17163897	0.86[ASN][1000 genomes]
rs17163898	0.86[ASN][1000 genomes]
rs17163903	0.86[ASN][1000 genomes]
rs17163914	0.88[ASN][1000 genomes]
rs17163915	0.90[ASN][1000 genomes]
rs17163919	0.86[ASN][1000 genomes]
rs17163921	0.86[ASN][1000 genomes]
rs2301960	0.90[ASN][1000 genomes]
rs2301961	0.86[ASN][1000 genomes]
rs2301962	0.86[ASN][1000 genomes]
rs28670953	0.94[ASN][1000 genomes]
rs3779409	0.90[ASN][1000 genomes]
rs3779410	0.86[ASN][1000 genomes]
rs3801434	0.86[ASN][1000 genomes]
rs3801439	0.86[ASN][1000 genomes]
rs3801440	0.86[ASN][1000 genomes]
rs3801443	0.86[ASN][1000 genomes]
rs3801445	0.84[ASN][1000 genomes]
rs3815234	0.86[ASN][1000 genomes]
rs4348382	0.86[ASN][1000 genomes]
rs4398795	0.86[ASN][1000 genomes]
rs4521663	0.90[ASN][1000 genomes]
rs60680874	0.86[ASN][1000 genomes]
rs61011519	0.86[ASN][1000 genomes]
rs6950505	0.90[ASN][1000 genomes]
rs6951535	0.86[ASN][1000 genomes]
rs6956108	0.86[ASN][1000 genomes]
rs6970876	0.86[ASN][1000 genomes]
rs73678561	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1018905	chr7:10679889-10980691	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv887600	chr7:10807685-11090546	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	esv2752140	chr7:10817060-11029748	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers 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 target site	30 gene(s)	inside rSNPs	diseases
14	nsv1031498	chr7:10882696-11110412	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv464364	chr7:10904752-10988866	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv606193	chr7:10904752-10988866	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv887601	chr7:10912949-11049523	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
18	nsv1027289	chr7:10976057-10992462	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:10977000-10980800	Active TSS	Aorta	Aorta
2	chr7:10977400-10980800	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr7:10977400-10980800	Active TSS	Right Atrium	heart
4	chr7:10977600-10981000	Active TSS	GM12878-XiMat	blood
5	chr7:10977800-10980800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr7:10977800-10980800	Active TSS	Right Ventricle	heart
7	chr7:10978000-10980600	Active TSS	A549	lung
8	chr7:10978000-10980800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr7:10978000-10980800	Active TSS	Psoas Muscle	Psoas
10	chr7:10978200-10980600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:10978200-10980600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:10978200-10980600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:10978200-10980600	Active TSS	Fetal Stomach	stomach
14	chr7:10978200-10980600	Active TSS	HSMM	muscle
15	chr7:10978200-10980800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:10978200-10980800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:10978200-10980800	Active TSS	Fetal Intestine Small	intestine
18	chr7:10978200-10980800	Active TSS	Fetal Kidney	kidney
19	chr7:10978200-10980800	Active TSS	Ovary	ovary
20	chr7:10978200-10980800	Active TSS	HSMMtube	muscle
21	chr7:10978200-10981000	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr7:10978200-10981000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:10978200-10981000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:10978200-10981000	Active TSS	Stomach Smooth Muscle	stomach
25	chr7:10978200-10981200	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr7:10978400-10980600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:10978400-10980600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:10978400-10980600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:10978400-10980600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:10978400-10980600	Active TSS	Colonic Mucosa	Colon
31	chr7:10978400-10980800	Active TSS	H9 Cell Line	embryonic stem cell
32	chr7:10978400-10980800	Active TSS	Muscle Satellite Cultured Cells	--
33	chr7:10978400-10980800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:10978400-10980800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:10978400-10980800	Active TSS	Fetal Muscle Trunk	muscle
36	chr7:10978400-10980800	Active TSS	Left Ventricle	heart
37	chr7:10978400-10980800	Active TSS	NHDF-Ad	bronchial
38	chr7:10978600-10980600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:10978600-10980600	Active TSS	Brain Cingulate Gyrus	brain
40	chr7:10978600-10980600	Active TSS	Colon Smooth Muscle	Colon
41	chr7:10978600-10980600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr7:10978600-10980600	Active TSS	Fetal Heart	heart
43	chr7:10978600-10980600	Active TSS	Fetal Lung	lung
44	chr7:10978600-10980600	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr7:10978600-10980600	Bivalent/Poised TSS	HepG2	liver
46	chr7:10978600-10980600	Active TSS	HMEC	breast
47	chr7:10978600-10980600	Active TSS	K562	blood
48	chr7:10978600-10980800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr7:10978600-10980800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:10978600-10980800	Active TSS	HUES48 Cell Line	embryonic stem cell

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