Variant report

Variant	rs3176493
Chromosome Location	chr7:48019357-48019358
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	MYC	chr7:48018884-48019377	MCF-7	breast:	n/a	n/a
2	POLR2A	chr7:48018656-48019486	PFSK-1	brain:	n/a	n/a
3	FOXP2	chr7:48018835-48019414	PFSK-1	brain:	n/a	n/a
4	CREB1	chr7:48018760-48019557	GM12878	blood:	n/a	n/a
5	ZEB1	chr7:48018878-48019486	GM12878	blood:	n/a	n/a
6	BCL3	chr7:48018897-48019431	A549	lung:	n/a	n/a
7	USF1	chr7:48018557-48019471	H1-hESC	embryonic stem cell:	n/a	chr7:48018811-48018822
8	ZNF143	chr7:48018972-48019430	GM12878	blood:	n/a	chr7:48019339-48019357
9	USF1	chr7:48018493-48019460	H1-hESC	embryonic stem cell:	n/a	chr7:48018811-48018822
10	YY1	chr7:48018922-48019371	HCT-116	colon:	n/a	n/a
11	POLR2A	chr7:48018329-48019508	K562	blood:	n/a	n/a
12	USF1	chr7:48018974-48019386	A549	lung:	n/a	n/a
13	RELA	chr7:48018354-48019454	GM15510	blood:	n/a	n/a
14	FOXA2	chr7:48018854-48019471	A549	lung:	n/a	n/a
15	CCNT2	chr7:48018724-48019475	K562	blood:	n/a	n/a
16	CHD1	chr7:48018982-48019511	H1-hESC	embryonic stem cell:	n/a	chr7:48019343-48019353
17	POLR2A	chr7:48018713-48019373	MCF-7	breast:	n/a	n/a
18	GATA1	chr7:48017746-48019605	PBDE	blood:	n/a	chr7:48018631-48018642
19	MAZ	chr7:48018653-48019512	Hela-S3	cervix:	n/a	chr7:48018810-48018818 chr7:48018810-48018823 chr7:48018810-48018823 chr7:48018812-48018821 chr7:48018810-48018823 chr7:48018811-48018822
20	ATF1	chr7:48018348-48019499	K562	blood:	n/a	n/a
21	GABPA	chr7:48018674-48019605	HL-60	blood:	n/a	n/a
22	SP1	chr7:48018731-48019550	A549	lung:	n/a	chr7:48019273-48019284 chr7:48019343-48019357 chr7:48019270-48019284 chr7:48019261-48019271
23	HNF4A	chr7:48019056-48019488	HepG2	liver:	n/a	chr7:48019323-48019338 chr7:48019318-48019330 chr7:48019324-48019338 chr7:48019319-48019331 chr7:48019310-48019323 chr7:48019324-48019337 chr7:48019318-48019330 chr7:48019317-48019331 chr7:48019320-48019342 chr7:48019310-48019324 chr7:48019311-48019323
24	POLR2A	chr7:48018702-48019498	HL-60	blood:	n/a	n/a
25	SIN3AK20	chr7:48018460-48019435	PANC-1	pancreas:	n/a	n/a
26	GATA3	chr7:48018704-48019615	MCF-7	breast:	n/a	n/a
27	NR2F2	chr7:48018450-48019679	HepG2	liver:	n/a	chr7:48019315-48019330
28	ELK1	chr7:48018920-48019396	K562	blood:	n/a	n/a
29	YY1	chr7:48018874-48019410	K562	blood:	n/a	n/a
30	POLR2A	chr7:48018442-48019484	GM12892	blood:	n/a	n/a
31	JUND	chr7:48019039-48019431	HepG2	liver:	n/a	n/a
32	POLR2A	chr7:48018099-48019561	GM12878	blood:	n/a	n/a
33	ZNF143	chr7:48018972-48019374	Hela-S3	cervix:	n/a	chr7:48019339-48019357
34	EP300	chr7:48018182-48019431	K562	blood:	n/a	n/a
35	EP300	chr7:48018505-48019574	SK-N-SH	brain:	n/a	n/a
36	YY1	chr7:48018631-48019409	GM12878	blood:	n/a	n/a
37	RCOR1	chr7:48018203-48019674	K562	blood:	n/a	n/a
38	ELF1	chr7:48018914-48019524	SK-N-SH	brain:	n/a	chr7:48019382-48019391 chr7:48019218-48019230
39	POLR2A	chr7:48018909-48019415	HepG2	liver:	n/a	n/a
40	MYC	chr7:48018531-48019541	H1-hESC	embryonic stem cell:	n/a	chr7:48018810-48018818 chr7:48018810-48018823 chr7:48018810-48018823 chr7:48018812-48018821 chr7:48018810-48018823 chr7:48018811-48018822
41	MAX	chr7:48018577-48019514	A549	lung:	n/a	chr7:48018810-48018818 chr7:48018810-48018823 chr7:48018810-48018823 chr7:48018812-48018821 chr7:48018810-48018823 chr7:48018811-48018822
42	ZBTB7A	chr7:48019105-48019453	HepG2	liver:	n/a	n/a
43	STAT1	chr7:48018971-48019375	GM12878	blood:	n/a	n/a
44	MYC	chr7:48018159-48019483	K562	blood:	n/a	chr7:48018810-48018818 chr7:48018810-48018823 chr7:48018810-48018823 chr7:48018812-48018821 chr7:48018810-48018823 chr7:48018811-48018822
45	E2F6	chr7:48018876-48019475	A549	lung:	n/a	n/a
46	POLR2A	chr7:48018588-48019504	NB4	blood:	n/a	n/a
47	RUNX3	chr7:48018571-48019511	GM12878	blood:	n/a	n/a
48	NFIC	chr7:48018761-48019476	GM12878	blood:	n/a	n/a
49	RXRA	chr7:48018985-48019454	HepG2	liver:	n/a	chr7:48019305-48019321 chr7:48019288-48019301 chr7:48019289-48019300 chr7:48019309-48019325 chr7:48019323-48019339 chr7:48019314-48019334 chr7:48019310-48019323 chr7:48019321-48019341 chr7:48019332-48019343 chr7:48019317-48019330 chr7:48019310-48019323 chr7:48019317-48019330 chr7:48019307-48019327 chr7:48019310-48019323 chr7:48019317-48019330
50	POLR2A	chr7:48018715-48019470	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:48017568..48020341-chr7:48128356..48131105,2	MCF-7	breast:
2	chr7:48017456..48020295-chr7:48126750..48129913,5	K562	blood:

Variant related genes	Relation type
HUS1	TF binding region
ENSG00000183696	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1125242	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11766127	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11767485	0.84[CHB][hapmap];1.00[YRI][hapmap]
rs12702399	0.88[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12702400	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13229586	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13239855	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs13239959	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13240488	0.89[EUR][1000 genomes]
rs17711348	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2280537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3176483	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3176565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35796271	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6463456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71547873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
3	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48017600-48019600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:48018000-48019600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:48018000-48019600	Active TSS	NHDF-Ad	bronchial
4	chr7:48018000-48019800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:48018000-48019800	Active TSS	Fetal Brain Female	brain
6	chr7:48018200-48019600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:48018200-48019600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:48018200-48019600	Active TSS	Aorta	Aorta
9	chr7:48018200-48019800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr7:48018200-48020000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr7:48018400-48019400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:48018400-48019400	Active TSS	Fetal Stomach	stomach
13	chr7:48018400-48019400	Active TSS	Gastric	stomach
14	chr7:48018400-48019400	Active TSS	Spleen	Spleen
15	chr7:48018400-48019600	Active TSS	H1 Cell Line	embryonic stem cell
16	chr7:48018400-48019600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:48018400-48019600	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:48018400-48019600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:48018400-48019600	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr7:48018400-48019600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:48018400-48019600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:48018400-48019600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:48018400-48019600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:48018400-48019600	Active TSS	Fetal Intestine Small	intestine
25	chr7:48018400-48019600	Active TSS	Fetal Muscle Trunk	muscle
26	chr7:48018400-48019600	Active TSS	Left Ventricle	heart
27	chr7:48018400-48019600	Active TSS	Ovary	ovary
28	chr7:48018400-48019600	Active TSS	Pancreas	Pancrea
29	chr7:48018400-48019600	Active TSS	Psoas Muscle	Psoas
30	chr7:48018400-48019600	Active TSS	Right Atrium	heart
31	chr7:48018400-48019600	Active TSS	Right Ventricle	heart
32	chr7:48018400-48019600	Active TSS	GM12878-XiMat	blood
33	chr7:48018400-48019600	Active TSS	HSMM	muscle
34	chr7:48018400-48019600	Active TSS	HSMMtube	muscle
35	chr7:48018400-48019800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr7:48018400-48019800	Active TSS	H9 Cell Line	embryonic stem cell
37	chr7:48018400-48019800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:48018400-48019800	Active TSS	Brain Angular Gyrus	brain
39	chr7:48018400-48019800	Active TSS	Brain Cingulate Gyrus	brain
40	chr7:48018400-48019800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:48018400-48019800	Active TSS	Fetal Brain Male	brain
42	chr7:48018600-48019400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:48018600-48019400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:48018600-48019400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:48018600-48019400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:48018600-48019400	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr7:48018600-48019400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr7:48018600-48019400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:48018600-48019400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr7:48018600-48019400	Active TSS	Esophagus	oesophagus

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