Variant report

Variant	rs73193000
Chromosome Location	chr7:111847094-111847095
allele	A/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	CREB1	chr7:111845317-111847490	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:111845903-111847363	GM12892	blood:	n/a	n/a
3	YY1	chr7:111846221-111847388	K562	blood:	n/a	chr7:111847107-111847116
4	UBTF	chr7:111845823-111847177	K562	blood:	n/a	n/a
5	NRF1	chr7:111845464-111847542	SK-N-SH	brain:	n/a	chr7:111846495-111846504 chr7:111846080-111846089
6	SMARCC1	chr7:111845184-111847358	Hela-S3	cervix:	n/a	chr7:111846552-111846561
7	TCF7L2	chr7:111845762-111847130	HCT-116	colon:	n/a	n/a
8	MYC	chr7:111846196-111847130	K562	blood:	n/a	chr7:111846494-111846504
9	CTBP2	chr7:111845133-111847412	H1-hESC	embryonic stem cell:	n/a	n/a
10	YY1	chr7:111846292-111847340	GM12878	blood:	n/a	chr7:111847107-111847116
11	TAF1	chr7:111845928-111847348	H1-neurons	neurons:	n/a	n/a
12	YY1	chr7:111846232-111847154	SK-N-SH_RA	brain:	n/a	chr7:111847107-111847116
13	SMARCB1	chr7:111845245-111847283	Hela-S3	cervix:	n/a	chr7:111846552-111846561
14	REST	chr7:111843971-111847587	H1-neurons	neurons:	n/a	chr7:111846001-111846011 chr7:111846491-111846504 chr7:111845994-111846012
15	TCF7L2	chr7:111845211-111847344	Hela-S3	cervix:	n/a	chr7:111845244-111845254
16	RAD21	chr7:111845280-111847526	IMR90	lung:	n/a	chr7:111845990-111846002
17	HCFC1	chr7:111845609-111847418	K562	blood:	n/a	n/a
18	YY1	chr7:111846318-111847404	K562	blood:	n/a	chr7:111847107-111847116
19	MAX	chr7:111846285-111847118	K562	blood:	n/a	chr7:111846494-111846504
20	MAX	chr7:111845773-111847521	K562	blood:	n/a	chr7:111846494-111846504
21	SREBP1	chr7:111846062-111847512	GM12878	blood:	n/a	n/a
22	MXI1	chr7:111844822-111847472	IMR90	lung:	n/a	n/a
23	CHD2	chr7:111845775-111847234	GM12878	blood:	n/a	n/a
24	YY1	chr7:111846137-111847172	H1-hESC	embryonic stem cell:	n/a	chr7:111847107-111847116
25	RCOR1	chr7:111846138-111847600	K562	blood:	n/a	n/a
26	SMARCC2	chr7:111845175-111847431	Hela-S3	cervix:	n/a	chr7:111846552-111846561
27	ELF1	chr7:111845758-111847245	GM12878	blood:	n/a	chr7:111846876-111846885 chr7:111846576-111846585 chr7:111846575-111846586 chr7:111846575-111846586
28	CCNT2	chr7:111845632-111847527	K562	blood:	n/a	n/a
29	YY1	chr7:111846207-111847119	HepG2	liver:	n/a	chr7:111847107-111847116
30	MXI1	chr7:111843467-111848079	SK-N-SH	brain:	n/a	n/a
31	SP1	chr7:111846179-111847123	HCT-116	colon:	n/a	chr7:111846720-111846731 chr7:111846721-111846731 chr7:111846721-111846730 chr7:111846606-111846615 chr7:111846493-111846505 chr7:111846722-111846731 chr7:111846605-111846614 chr7:111846720-111846732 chr7:111846606-111846615
32	TAF1	chr7:111846595-111847141	K562	blood:	n/a	n/a
33	POLR2A	chr7:111846065-111847384	GM19193	blood:	n/a	n/a
34	YY1	chr7:111846253-111847182	GM12891	blood:	n/a	chr7:111847107-111847116
35	ELF1	chr7:111846130-111847134	SK-N-SH	brain:	n/a	chr7:111846876-111846885 chr7:111846576-111846585 chr7:111846575-111846586 chr7:111846575-111846586
36	YY1	chr7:111846253-111847255	H1-hESC	embryonic stem cell:	n/a	chr7:111847107-111847116
37	TAF1	chr7:111846162-111847144	HepG2	liver:	n/a	n/a
38	SIN3A	chr7:111846260-111847181	GM12878	blood:	n/a	chr7:111846735-111846746
39	CTCF	chr7:111847060-111847210	AG09309	skin:	n/a	n/a
40	POLR2A	chr7:111846217-111847246	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr7:111846056-111847154	SK-N-MC	brain:	n/a	n/a
42	CHD2	chr7:111845394-111847393	Hela-S3	cervix:	n/a	n/a
43	RFX5	chr7:111845258-111847494	Hela-S3	cervix:	n/a	n/a
44	RCOR1	chr7:111846310-111847422	K562	blood:	n/a	n/a
45	ELF1	chr7:111846254-111847299	MCF-7	breast:	n/a	chr7:111846876-111846885 chr7:111846576-111846585 chr7:111846575-111846586 chr7:111846575-111846586
46	MXI1	chr7:111844955-111847596	HepG2	liver:	n/a	n/a
47	ZNF263	chr7:111844288-111847502	HEK293-T-REx	kidney:	n/a	chr7:111845191-111845200 chr7:111845576-111845585
48	STAT5A	chr7:111846625-111847171	GM12878	blood:	n/a	n/a
49	SIN3AK20	chr7:111845646-111847729	MCF-7	breast:	n/a	n/a
50	ELF1	chr7:111846156-111847158	MCF-7	breast:	n/a	chr7:111846876-111846885 chr7:111846576-111846585 chr7:111846575-111846586 chr7:111846575-111846586

Variant related genes	Relation type
DOCK4	TF binding region

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10046468	1.00[ASN][1000 genomes]
rs10224789	0.93[ASN][1000 genomes]
rs10227494	1.00[ASN][1000 genomes]
rs10232109	1.00[ASN][1000 genomes]
rs10232110	1.00[ASN][1000 genomes]
rs10237213	1.00[ASN][1000 genomes]
rs10239663	1.00[ASN][1000 genomes]
rs10243005	1.00[ASN][1000 genomes]
rs10246422	1.00[ASN][1000 genomes]
rs10248314	1.00[ASN][1000 genomes]
rs10251698	1.00[ASN][1000 genomes]
rs10253148	0.86[ASN][1000 genomes]
rs10261860	1.00[ASN][1000 genomes]
rs10266976	1.00[ASN][1000 genomes]
rs10269057	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10274016	0.93[ASN][1000 genomes]
rs10275406	1.00[ASN][1000 genomes]
rs10276140	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10276369	1.00[ASN][1000 genomes]
rs10276727	0.93[ASN][1000 genomes]
rs10276853	1.00[ASN][1000 genomes]
rs10278420	1.00[ASN][1000 genomes]
rs10281805	1.00[ASN][1000 genomes]
rs10282279	1.00[ASN][1000 genomes]
rs1047550	1.00[ASN][1000 genomes]
rs1047551	1.00[ASN][1000 genomes]
rs12530699	1.00[ASN][1000 genomes]
rs12532522	1.00[ASN][1000 genomes]
rs12534930	1.00[ASN][1000 genomes]
rs12537934	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159353	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159566	0.86[ASN][1000 genomes]
rs17159604	1.00[ASN][1000 genomes]
rs17402962	1.00[ASN][1000 genomes]
rs17491423	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2189289	1.00[ASN][1000 genomes]
rs2285732	1.00[ASN][1000 genomes]
rs28532417	1.00[ASN][1000 genomes]
rs2894646	1.00[ASN][1000 genomes]
rs3109106	1.00[ASN][1000 genomes]
rs3109116	1.00[ASN][1000 genomes]
rs3109117	1.00[ASN][1000 genomes]
rs3128395	1.00[ASN][1000 genomes]
rs41281060	0.93[ASN][1000 genomes]
rs56132236	1.00[ASN][1000 genomes]
rs56341778	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57214357	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60127009	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60691495	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61669542	1.00[ASN][1000 genomes]
rs67064485	1.00[ASN][1000 genomes]
rs67604537	1.00[ASN][1000 genomes]
rs6943448	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944498	1.00[ASN][1000 genomes]
rs6947063	1.00[ASN][1000 genomes]
rs6949234	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950282	1.00[ASN][1000 genomes]
rs6964483	1.00[ASN][1000 genomes]
rs6965896	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969176	1.00[ASN][1000 genomes]
rs6971023	1.00[ASN][1000 genomes]
rs73192992	1.00[ASN][1000 genomes]
rs73192993	1.00[ASN][1000 genomes]
rs73195204	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195211	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195218	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195220	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195223	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195224	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195225	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73197338	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73197343	1.00[ASN][1000 genomes]
rs73197349	1.00[ASN][1000 genomes]
rs73197363	1.00[ASN][1000 genomes]
rs73197366	1.00[ASN][1000 genomes]
rs73197367	1.00[ASN][1000 genomes]
rs73197376	1.00[ASN][1000 genomes]
rs7786555	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790065	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806811	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810149	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810734	1.00[ASN][1000 genomes]
rs7812188	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr7:111843400-111847200	Active TSS	Brain Hippocampus Middle	brain
2	chr7:111843400-111847400	Active TSS	Brain Cingulate Gyrus	brain
3	chr7:111843400-111847800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr7:111843600-111847200	Active TSS	Brain Angular Gyrus	brain
5	chr7:111843600-111847600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:111843600-111847800	Active TSS	NHLF	lung
7	chr7:111843600-111848400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:111843800-111847200	Active TSS	Brain Substantia Nigra	brain
9	chr7:111843800-111847200	Active TSS	Fetal Lung	lung
10	chr7:111843800-111847400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr7:111843800-111847400	Active TSS	NHEK	skin
12	chr7:111843800-111847600	Active TSS	Lung	lung
13	chr7:111844000-111847200	Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr7:111844000-111847400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:111844000-111847600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr7:111844000-111847600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:111844000-111847600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:111844000-111847600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:111844000-111847600	Active TSS	Left Ventricle	heart
20	chr7:111844000-111847800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:111844000-111847800	Active TSS	NHDF-Ad	bronchial
22	chr7:111844000-111848000	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr7:111844000-111848000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr7:111844200-111847200	Active TSS	HUVEC	blood vessel
25	chr7:111844200-111847400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:111844200-111847400	Active TSS	Muscle Satellite Cultured Cells	--
27	chr7:111844200-111847400	Active TSS	Brain Anterior Caudate	brain
28	chr7:111844200-111847400	Active TSS	A549	lung
29	chr7:111844200-111847600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:111844200-111847600	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr7:111844200-111847600	Active TSS	Pancreas	Pancrea
32	chr7:111844200-111847600	Active TSS	Right Ventricle	heart
33	chr7:111844200-111847800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:111844200-111847800	Active TSS	Aorta	Aorta
35	chr7:111844200-111848200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:111844400-111847400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:111844400-111847400	Bivalent/Poised TSS	HepG2	liver
38	chr7:111844400-111847600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:111844400-111847600	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr7:111844400-111847600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:111844400-111847600	Active TSS	Esophagus	oesophagus
42	chr7:111844400-111847600	Active TSS	Ovary	ovary
43	chr7:111844400-111847600	Active TSS	Psoas Muscle	Psoas
44	chr7:111844400-111847600	Active TSS	NH-A	brain
45	chr7:111844400-111847800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:111844400-111847800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr7:111844400-111847800	Active TSS	HMEC	breast
48	chr7:111844400-111848000	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr7:111844400-111848000	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr7:111844600-111847600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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