Variant report

Variant	rs17163795
Chromosome Location	chr7:10979281-10979282
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:160)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:160 , 50 per page) page: 1 2 3 4

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	SMC3	chr7:10979147-10980057	HepG2	liver:	n/a	n/a
3	FOXA1	chr7:10978925-10979463	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:10979257-10980525	PANC-1	pancreas:	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	RELA	chr7:10979154-10980479	GM19099	blood:	n/a	n/a
8	BHLHE40	chr7:10979238-10981040	K562	blood:	n/a	n/a
9	POLR2A	chr7:10979193-10980950	GM12892	blood:	n/a	n/a
10	POLR2A	chr7:10979179-10980443	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr7:10979124-10980511	K562	blood:	n/a	n/a
12	TBP	chr7:10979111-10980465	HepG2	liver:	n/a	n/a
13	SIN3A	chr7:10978945-10980461	H1-hESC	embryonic stem cell:	n/a	n/a
14	TAF1	chr7:10979268-10980372	Hela-S3	cervix:	n/a	n/a
15	RCOR1	chr7:10979135-10980764	K562	blood:	n/a	n/a
16	MAZ	chr7:10979273-10980678	IMR90	lung:	n/a	chr7:10980620-10980630
17	POLR2A	chr7:10979039-10980471	K562	blood:	n/a	n/a
18	FOXM1	chr7:10979019-10980712	GM12878	blood:	n/a	n/a
19	EP300	chr7:10979204-10980375	HepG2	liver:	n/a	chr7:10980110-10980126 chr7:10980206-10980222
20	MYBL2	chr7:10979031-10980498	HepG2	liver:	n/a	n/a
21	POLR2A	chr7:10978928-10980584	Hela-S3	cervix:	n/a	n/a
22	MAX	chr7:10979035-10980484	Hela-S3	cervix:	n/a	n/a
23	TAF1	chr7:10979129-10980426	H1-hESC	embryonic stem cell:	n/a	n/a
24	FOXA1	chr7:10978970-10979419	HepG2	liver:	n/a	n/a
25	TAF1	chr7:10979044-10980427	K562	blood:	n/a	n/a
26	SMARCC2	chr7:10979022-10980952	Hela-S3	cervix:	n/a	n/a
27	HEY1	chr7:10979221-10980520	HepG2	liver:	n/a	n/a
28	RELA	chr7:10979150-10980546	GM18505	blood:	n/a	n/a
29	POLR2A	chr7:10979108-10980523	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr7:10979135-10980564	HL-60	blood:	n/a	n/a
31	POLR2A	chr7:10979252-10980548	H1-hESC	embryonic stem cell:	n/a	n/a
32	RAD21	chr7:10979081-10979888	SK-N-SH_RA	brain:	n/a	n/a
33	TAF1	chr7:10979172-10980503	A549	lung:	n/a	n/a
34	HEY1	chr7:10979279-10979994	K562	blood:	n/a	n/a
35	POLR2A	chr7:10979262-10980541	PFSK-1	brain:	n/a	n/a
36	MAX	chr7:10979279-10980678	SK-N-SH	brain:	n/a	chr7:10980620-10980630
37	POLR2A	chr7:10979090-10981026	HepG2	liver:	n/a	n/a
38	UBTF	chr7:10979170-10980572	K562	blood:	n/a	n/a
39	RAD21	chr7:10979274-10980456	HepG2	liver:	n/a	chr7:10980144-10980154
40	MAX	chr7:10979132-10980348	HepG2	liver:	n/a	n/a
41	POLR2A	chr7:10979177-10980949	GM18505	blood:	n/a	n/a
42	POLR2A	chr7:10979248-10980537	K562	blood:	n/a	n/a
43	POLR2A	chr7:10979213-10980566	GM12892	blood:	n/a	n/a
44	POLR2A	chr7:10979179-10980934	GM18951	blood:	n/a	n/a
45	REST	chr7:10979168-10979943	HepG2	liver:	n/a	n/a
46	POLR2A	chr7:10979169-10980494	K562	blood:	n/a	n/a
47	POLR2A	chr7:10978943-10980975	GM19099	blood:	n/a	n/a
48	POLR2A	chr7:10979091-10979977	HepG2	liver:	n/a	n/a
49	GATA1	chr7:10978403-10980484	PBDE	blood:	n/a	n/a
50	TAF7	chr7:10979258-10979967	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:10979247-10979297	NT2-D1	testis:	n/a
2	chr7:10979247-10979297	H1-hESC	embryonic stem cell:	embryo
3	chr7:10979247-10979297	K562	blood:	n/a
4	chr7:10979247-10979297	GM12878	blood:	n/a
5	chr7:10979247-10979297	Jurkat	blood:	n/a
6	chr7:10979247-10979297	Hepatocyte	liver:	n/a
7	chr7:10979247-10979297	GM12891	blood:	n/a
8	chr7:10979247-10979297	HMEC	breast:	n/a
9	chr7:10979247-10979297	HCT-116	colon:	n/a
10	chr7:10979247-10979297	ProgFib	skin:	n/a
11	chr7:10979247-10979297	NHBE	bronchial:	n/a
12	chr7:10979247-10979297	HL-60	blood:	n/a
13	chr7:10979247-10979297	HEK293	kidney:	embryo
14	chr7:10979247-10979297	SK-N-SH	brain:	n/a
15	chr7:10979247-10979297	HAEpiC	amniotic membrane:	n/a
16	chr7:10979247-10979297	SKMC	muscle:	n/a
17	chr7:10979247-10979297	BJ	skin:	n/a
18	chr7:10979247-10979297	SK-N-MC	brain:	n/a
19	chr7:10979247-10979297	SAEC	small airway:	n/a
20	chr7:10979247-10979297	ECC-1	luminal epithelium:	n/a
21	chr7:10979247-10979297	Caco-2	colon:	n/a
22	chr7:10979247-10979297	HEEpiC	esophagus:	n/a
23	chr7:10979247-10979297	HPAEpiC	pulmonary alveolar:	n/a
24	chr7:10979247-10979297	T-47D	breast:	n/a
25	chr7:10979247-10979297	ovcar-3	ovarian:	n/a
26	chr7:10979247-10979297	HNPCEpiC	eye:	n/a
27	chr7:10979247-10979297	GM19239	blood:	n/a
28	chr7:10979247-10979297	CMK	blood:	n/a
29	chr7:10979247-10979297	HUVEC	blood vessel:	n/a
30	chr7:10979247-10979297	HepG2	liver:	n/a
31	chr7:10979247-10979297	HCM	heart:	n/a
32	chr7:10979247-10979297	IMR90	lung:	fetal
33	chr7:10979247-10979297	MCF10A-Er-Src	breast:	n/a
34	chr7:10979247-10979297	NH-A	brain:	n/a
35	chr7:10979247-10979297	A549	lung:	n/a
36	chr7:10979247-10979297	AG09309	skin:	n/a
37	chr7:10979247-10979297	PrEC	prostate:	n/a
38	chr7:10979247-10979297	HIPEpiC	eye:	n/a
39	chr7:10979247-10979297	AG09319	gingival:	n/a
40	chr7:10979247-10979297	AoSMC	blood vessel:	n/a
41	chr7:10979247-10979297	HRPEpiC	eye:	n/a
42	chr7:10979247-10979297	Hela-S3	cervix:	n/a
43	chr7:10979247-10979297	HCPEpiC	choroid plexus:	n/a
44	chr7:10979247-10979297	AG10803	skin:	n/a
45	chr7:10979247-10979297	LNCaP	prostate:	n/a
46	chr7:10979247-10979297	U87	brain:	n/a
47	chr7:10979247-10979297	RPTEC	kidney:	n/a
48	chr7:10979247-10979297	HCF	heart:	n/a
49	chr7:10979247-10979297	BE2_C	brain:	n/a
50	chr7:10979247-10979297	PFSK-1	brain:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:10978101..10982429-chr7:11011509..11017731,20	K562	blood:
2	chr7:10976808..10978708-chr7:10978899..10981503,2	MCF-7	breast:
3	chr7:10975906..10982429-chr7:11007978..11018673,26	K562	blood:
4	chr7:10977305..10982144-chr7:11011875..11016071,10	MCF-7	breast:
5	chr7:10978242..10981238-chr7:11011671..11015550,7	MCF-7	breast:
6	chr7:10978313..10981160-chr7:11099563..11101890,2	K562	blood:
7	chr3:12882526..12883455-chr7:10979276..10980108,2	Hela-S3	cervix:
8	chr3:156391482..156392232-chr7:10979248..10979918,2	HCT-116	colon:

No data

Variant related genes	Relation type
NDUFA4	TF binding region
ENSG00000271185	TF binding region
ENSG00000271185	CpG island
NDUFA4	CpG island
ENSG00000243926	Chromatin interaction
ENSG00000163659	Chromatin interaction
ENSG00000189043	Chromatin interaction
ENSG00000106443	Chromatin interaction
ENSG00000144713	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10272132	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12532975	1.00[ASN][1000 genomes]
rs12533265	1.00[ASN][1000 genomes]
rs12537541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12539905	1.00[ASN][1000 genomes]
rs12540053	0.98[ASN][1000 genomes]
rs12540752	0.96[ASN][1000 genomes]
rs17163781	1.00[ASN][1000 genomes]
rs17163788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17163790	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17163792	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17163974	1.00[CEU][hapmap]
rs41469647	1.00[CEU][hapmap]
rs6956108	1.00[CEU][hapmap]
rs73678313	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811275	1.00[CEU][hapmap]

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:127 , 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	chr7:10978000-10979600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:10978000-10980600	Active TSS	A549	lung
9	chr7:10978000-10980800	Active TSS	H1 Cell Line	embryonic stem cell
10	chr7:10978000-10980800	Active TSS	Psoas Muscle	Psoas
11	chr7:10978200-10979400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:10978200-10980400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:10978200-10980400	Active TSS	NHLF	lung
14	chr7:10978200-10980600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:10978200-10980600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:10978200-10980600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:10978200-10980600	Active TSS	Fetal Stomach	stomach
18	chr7:10978200-10980600	Active TSS	HSMM	muscle
19	chr7:10978200-10980800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:10978200-10980800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:10978200-10980800	Active TSS	Fetal Intestine Small	intestine
22	chr7:10978200-10980800	Active TSS	Fetal Kidney	kidney
23	chr7:10978200-10980800	Active TSS	Ovary	ovary
24	chr7:10978200-10980800	Active TSS	HSMMtube	muscle
25	chr7:10978200-10981000	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr7:10978200-10981000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:10978200-10981000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:10978200-10981000	Active TSS	Stomach Smooth Muscle	stomach
29	chr7:10978200-10981200	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr7:10978400-10979400	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr7:10978400-10979400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr7:10978400-10979600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr7:10978400-10979800	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr7:10978400-10980600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:10978400-10980600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:10978400-10980600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:10978400-10980600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:10978400-10980600	Active TSS	Colonic Mucosa	Colon
39	chr7:10978400-10980800	Active TSS	H9 Cell Line	embryonic stem cell
40	chr7:10978400-10980800	Active TSS	Muscle Satellite Cultured Cells	--
41	chr7:10978400-10980800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:10978400-10980800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:10978400-10980800	Active TSS	Fetal Muscle Trunk	muscle
44	chr7:10978400-10980800	Active TSS	Left Ventricle	heart
45	chr7:10978400-10980800	Active TSS	NHDF-Ad	bronchial
46	chr7:10978600-10979400	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr7:10978600-10980400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:10978600-10980400	Active TSS	Fetal Muscle Leg	muscle
49	chr7:10978600-10980400	Active TSS	Hela-S3	cervix
50	chr7:10978600-10980400	Active TSS	NH-A	brain

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