Variant report

Variant	rs17163801
Chromosome Location	chr7:10980362-10980363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:368)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

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	CEBPB	chr7:10979391-10980369	GM12878	blood:	n/a	n/a
3	ELF1	chr7:10979864-10980436	K562	blood:	n/a	n/a
4	CEBPD	chr7:10980093-10980398	HepG2	liver:	n/a	n/a
5	TCF12	chr7:10980009-10980440	GM12878	blood:	n/a	chr7:10980174-10980181
6	EP300	chr7:10979519-10980419	GM12878	blood:	n/a	chr7:10980110-10980126 chr7:10980206-10980222
7	RAD21	chr7:10980146-10980423	Hela-S3	cervix:	n/a	n/a
8	E2F4	chr7:10979547-10980413	MCF10A-Er-Src	breast:	n/a	chr7:10980123-10980138 chr7:10980228-10980238 chr7:10980147-10980156
9	POLR2A	chr7:10979257-10980525	PANC-1	pancreas:	n/a	n/a
10	TEAD4	chr7:10979684-10980374	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr7:10980015-10980487	GM12878	blood:	n/a	n/a
12	MAX	chr7:10979475-10980532	ECC-1	luminal epithelium:	n/a	n/a
13	EGR1	chr7:10979366-10980416	HCT-116	colon:	n/a	chr7:10980061-10980074 chr7:10980061-10980074 chr7:10980063-10980073
14	POLR2A	chr7:10979160-10980722	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr7:10978837-10980899	SK-N-MC	brain:	n/a	n/a
16	TAF1	chr7:10979313-10980461	GM12878	blood:	n/a	n/a
17	RELA	chr7:10979154-10980479	GM19099	blood:	n/a	n/a
18	POLR2A	chr7:10979538-10980507	K562	blood:	n/a	n/a
19	BHLHE40	chr7:10979238-10981040	K562	blood:	n/a	n/a
20	ZMIZ1	chr7:10979541-10980691	K562	blood:	n/a	n/a
21	HEY1	chr7:10980093-10980441	HepG2	liver:	n/a	n/a
22	POLR2A	chr7:10979193-10980950	GM12892	blood:	n/a	n/a
23	POLR2A	chr7:10979179-10980443	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr7:10979124-10980511	K562	blood:	n/a	n/a
25	IRF1	chr7:10979435-10980469	K562	blood:	n/a	n/a
26	CEBPB	chr7:10980143-10980487	K562	blood:	n/a	n/a
27	PML	chr7:10979991-10980481	MCF-7	breast:	n/a	n/a
28	BHLHE40	chr7:10979553-10980980	GM12878	blood:	n/a	n/a
29	ETS1	chr7:10980002-10980368	K562	blood:	n/a	chr7:10980298-10980307 chr7:10980293-10980307 chr7:10980295-10980306
30	RAD21	chr7:10980024-10980430	GM12878	blood:	n/a	chr7:10980144-10980154
31	POLR2A	chr7:10979357-10980544	A549	lung:	n/a	n/a
32	TBP	chr7:10979111-10980465	HepG2	liver:	n/a	n/a
33	SIN3A	chr7:10978945-10980461	H1-hESC	embryonic stem cell:	n/a	n/a
34	ARID3A	chr7:10979327-10980859	HepG2	liver:	n/a	n/a
35	E2F4	chr7:10979595-10980428	GM12878	blood:	n/a	chr7:10980123-10980138 chr7:10980228-10980238 chr7:10980147-10980156
36	TCF7L2	chr7:10979515-10980394	HCT-116	colon:	n/a	n/a
37	MAZ	chr7:10979433-10980524	HepG2	liver:	n/a	n/a
38	TFAP2C	chr7:10979429-10980561	Hela-S3	cervix:	n/a	n/a
39	TAF1	chr7:10979268-10980372	Hela-S3	cervix:	n/a	n/a
40	RCOR1	chr7:10979135-10980764	K562	blood:	n/a	n/a
41	MAZ	chr7:10979273-10980678	IMR90	lung:	n/a	chr7:10980620-10980630
42	MAX	chr7:10979719-10980362	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr7:10979039-10980471	K562	blood:	n/a	n/a
44	EP300	chr7:10979636-10980849	GM12878	blood:	n/a	chr7:10980110-10980126 chr7:10980206-10980222
45	TAF1	chr7:10979301-10980441	H1-neurons	neurons:	n/a	n/a
46	HCFC1	chr7:10979371-10980515	K562	blood:	n/a	n/a
47	POLR2A	chr7:10979951-10980386	A549	lung:	n/a	n/a
48	TAF1	chr7:10979992-10980411	K562	blood:	n/a	n/a
49	FOXM1	chr7:10979019-10980712	GM12878	blood:	n/a	n/a
50	EP300	chr7:10979204-10980375	HepG2	liver:	n/a	chr7:10980110-10980126 chr7:10980206-10980222

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:10980318-10980368	HepG2	liver:	n/a
2	chr7:10980318-10980368	SAEC	small airway:	n/a
3	chr7:10980318-10980368	HCF	heart:	n/a
4	chr7:10980318-10980368	GM06990	blood:	n/a
5	chr7:10980318-10980368	HCPEpiC	choroid plexus:	n/a
6	chr7:10980318-10980368	Caco-2	colon:	n/a
7	chr7:10980318-10980368	H1-hESC	embryonic stem cell:	embryo
8	chr7:10980318-10980368	PANC-1	pancreas:	n/a
9	chr7:10980318-10980368	MCF-7	breast:	n/a
10	chr7:10980318-10980368	IMR90	lung:	fetal
11	chr7:10980318-10980368	HL-60	blood:	n/a
12	chr7:10980318-10980368	SKMC	muscle:	n/a
13	chr7:10980318-10980368	HAEpiC	amniotic membrane:	n/a
14	chr7:10980318-10980368	AoSMC	blood vessel:	n/a
15	chr7:10980318-10980368	CMK	blood:	n/a
16	chr7:10980318-10980368	GM12892	blood:	n/a
17	chr7:10980318-10980368	GM19239	blood:	n/a
18	chr7:10980318-10980368	ProgFib	skin:	n/a
19	chr7:10980318-10980368	U87	brain:	n/a
20	chr7:10980318-10980368	GM12878	blood:	n/a
21	chr7:10980318-10980368	HRCEpiC	kidney:	n/a
22	chr7:10980318-10980368	RPTEC	kidney:	n/a
23	chr7:10980318-10980368	ovcar-3	ovarian:	n/a
24	chr7:10980318-10980368	HNPCEpiC	eye:	n/a
25	chr7:10980318-10980368	HRE	kidney:	n/a
26	chr7:10980318-10980368	LNCaP	prostate:	n/a
27	chr7:10980318-10980368	BE2_C	brain:	n/a
28	chr7:10980318-10980368	SK-N-MC	brain:	n/a
29	chr7:10980318-10980368	HCT-116	colon:	n/a
30	chr7:10980318-10980368	AG04450	lung:	fetal
31	chr7:10980318-10980368	GM12891	blood:	n/a
32	chr7:10980318-10980368	HEEpiC	esophagus:	n/a
33	chr7:10980318-10980368	AG04449	skin:	fetal
34	chr7:10980318-10980368	HEK293	kidney:	embryo
35	chr7:10980318-10980368	HPAEpiC	pulmonary alveolar:	n/a
36	chr7:10980318-10980368	SK-N-SH	brain:	n/a
37	chr7:10980318-10980368	PrEC	prostate:	n/a
38	chr7:10980318-10980368	K562	blood:	n/a
39	chr7:10980318-10980368	Hepatocyte	liver:	n/a
40	chr7:10980318-10980368	NHDF-neo	bronchial:	n/a
41	chr7:10980318-10980368	NB4	blood:	n/a
42	chr7:10980318-10980368	MCF10A-Er-Src	breast:	n/a
43	chr7:10980318-10980368	HCM	heart:	n/a
44	chr7:10980318-10980368	A549	lung:	n/a
45	chr7:10980318-10980368	NH-A	brain:	n/a
46	chr7:10980318-10980368	AG09319	gingival:	n/a
47	chr7:10980318-10980368	ECC-1	luminal epithelium:	n/a
48	chr7:10980318-10980368	Jurkat	blood:	n/a
49	chr7:10980318-10980368	HIPEpiC	eye:	n/a
50	chr7:10980318-10980368	AG10803	skin:	n/a

(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:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHF14-5	chr7:10980050-10980362	ENSG00000271185.1

No data

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

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10268965	0.81[ASN][1000 genomes]
rs12667351	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12667441	0.94[ASN][1000 genomes]
rs12670712	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12671052	0.94[ASN][1000 genomes]
rs12671354	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17163776	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17163797	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17163803	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6954530	1.00[EUR][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: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	chr7:10978000-10980600	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	chr7:10978200-10980400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:10978200-10980400	Active TSS	NHLF	lung
12	chr7:10978200-10980600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:10978200-10980600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:10978200-10980600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:10978200-10980600	Active TSS	Fetal Stomach	stomach
16	chr7:10978200-10980600	Active TSS	HSMM	muscle
17	chr7:10978200-10980800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:10978200-10980800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:10978200-10980800	Active TSS	Fetal Intestine Small	intestine
20	chr7:10978200-10980800	Active TSS	Fetal Kidney	kidney
21	chr7:10978200-10980800	Active TSS	Ovary	ovary
22	chr7:10978200-10980800	Active TSS	HSMMtube	muscle
23	chr7:10978200-10981000	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr7:10978200-10981000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:10978200-10981000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:10978200-10981000	Active TSS	Stomach Smooth Muscle	stomach
27	chr7:10978200-10981200	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr7:10978400-10980600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:10978400-10980600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:10978400-10980600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:10978400-10980600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:10978400-10980600	Active TSS	Colonic Mucosa	Colon
33	chr7:10978400-10980800	Active TSS	H9 Cell Line	embryonic stem cell
34	chr7:10978400-10980800	Active TSS	Muscle Satellite Cultured Cells	--
35	chr7:10978400-10980800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:10978400-10980800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:10978400-10980800	Active TSS	Fetal Muscle Trunk	muscle
38	chr7:10978400-10980800	Active TSS	Left Ventricle	heart
39	chr7:10978400-10980800	Active TSS	NHDF-Ad	bronchial
40	chr7:10978600-10980400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:10978600-10980400	Active TSS	Fetal Muscle Leg	muscle
42	chr7:10978600-10980400	Active TSS	Hela-S3	cervix
43	chr7:10978600-10980400	Active TSS	NH-A	brain
44	chr7:10978600-10980600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:10978600-10980600	Active TSS	Brain Cingulate Gyrus	brain
46	chr7:10978600-10980600	Active TSS	Colon Smooth Muscle	Colon
47	chr7:10978600-10980600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr7:10978600-10980600	Active TSS	Fetal Heart	heart
49	chr7:10978600-10980600	Active TSS	Fetal Lung	lung
50	chr7:10978600-10980600	Active TSS	Skeletal Muscle Male	skeletal muscle

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