Variant report

Variant	rs10951937
Chromosome Location	chr7:48031624-48031625
allele	A/C
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	MAFF	chr7:48031470-48031822	HepG2	liver:	n/a	n/a
2	TBL1XR1	chr7:48031224-48031929	GM12878	blood:	n/a	n/a
3	MAX	chr7:48031236-48031959	MCF-7	breast:	n/a	chr7:48031369-48031385
4	YY1	chr7:48031443-48031704	GM12891	blood:	n/a	chr7:48031595-48031604 chr7:48031542-48031551
5	RAD21	chr7:48031315-48031735	Hela-S3	cervix:	n/a	chr7:48031496-48031515
6	POLR2A	chr7:48031528-48031851	ProgFib	skin:	n/a	n/a
7	RAD21	chr7:48031236-48031913	GM12878	blood:	n/a	chr7:48031496-48031515
8	CHD1	chr7:48031272-48031812	GM12878	blood:	n/a	n/a
9	ZNF143	chr7:48031172-48031967	H1-hESC	embryonic stem cell:	n/a	chr7:48031393-48031411 chr7:48031540-48031550 chr7:48031470-48031488
10	CCNT2	chr7:48031403-48031637	K562	blood:	n/a	n/a
11	ZNF143	chr7:48031281-48032112	GM12878	blood:	n/a	chr7:48031393-48031411 chr7:48031540-48031550 chr7:48031470-48031488
12	TBP	chr7:48031321-48031938	H1-hESC	embryonic stem cell:	n/a	n/a
13	YY1	chr7:48031231-48031861	GM12892	blood:	n/a	chr7:48031595-48031604 chr7:48031542-48031551
14	CTCF	chr7:48031275-48031722	A549	lung:	n/a	chr7:48031498-48031511 chr7:48031495-48031513
15	RCOR1	chr7:48031351-48031678	K562	blood:	n/a	n/a
16	WRNIP1	chr7:48031351-48031978	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:48031290-48031901	Gliobla	brain:	n/a	n/a
18	CTCF	chr7:48031354-48031642	ProgFib	skin:	n/a	chr7:48031498-48031511 chr7:48031495-48031513
19	CTCF	chr7:48031267-48031655	H1-hESC	embryonic stem cell:	n/a	chr7:48031498-48031511 chr7:48031495-48031513
20	CHD2	chr7:48031277-48031883	GM12878	blood:	n/a	n/a
21	SIN3AK20	chr7:48031221-48032012	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr7:48031265-48031955	GM12892	blood:	n/a	n/a
23	RAD21	chr7:48031135-48031917	IMR90	lung:	n/a	chr7:48031496-48031515
24	BCLAF1	chr7:48031213-48031801	GM12878	blood:	n/a	chr7:48031538-48031551 chr7:48031595-48031608 chr7:48031544-48031553
25	CTCF	chr7:48031353-48031631	H1-hESC	embryonic stem cell:	n/a	chr7:48031498-48031511 chr7:48031495-48031513
26	EP300	chr7:48031333-48031864	GM12878	blood:	n/a	chr7:48031605-48031621 chr7:48031542-48031551 chr7:48031540-48031549
27	BACH1	chr7:48031303-48031850	H1-hESC	embryonic stem cell:	n/a	n/a
28	RUNX3	chr7:48031072-48032063	GM12878	blood:	n/a	n/a
29	SP1	chr7:48031269-48031723	GM12878	blood:	n/a	chr7:48031472-48031482
30	RAD21	chr7:48031391-48031636	SK-N-SH_RA	brain:	n/a	chr7:48031496-48031515
31	SMC3	chr7:48031282-48031708	Hela-S3	cervix:	n/a	chr7:48031497-48031511
32	REST	chr7:48031281-48032044	HL-60	blood:	n/a	n/a
33	POLR2A	chr7:48031237-48031924	H1-hESC	embryonic stem cell:	n/a	n/a
34	SMC3	chr7:48031369-48031670	K562	blood:	n/a	chr7:48031497-48031511
35	STAT1	chr7:48031369-48031907	GM12878	blood:	n/a	chr7:48031487-48031499
36	POLR2A	chr7:48031207-48032019	HL-60	blood:	n/a	n/a
37	RELA	chr7:48031058-48031902	GM18951	blood:	n/a	n/a
38	CTCF	chr7:48030905-48031695	K562	blood:	n/a	chr7:48031498-48031511 chr7:48031495-48031513
39	POLR2A	chr7:48031230-48031953	GM19193	blood:	n/a	n/a
40	PAX5	chr7:48031299-48031684	GM12878	blood:	n/a	chr7:48031646-48031655
41	PAX5	chr7:48031166-48031794	GM12878	blood:	n/a	chr7:48031646-48031655
42	NFATC1	chr7:48031300-48031683	GM12878	blood:	n/a	n/a
43	POLR2A	chr7:48030940-48032092	PANC-1	pancreas:	n/a	n/a
44	POU2F2	chr7:48031283-48031738	GM12891	blood:	n/a	n/a
45	IRF4	chr7:48031095-48031715	GM12878	blood:	n/a	n/a
46	RAD21	chr7:48031289-48031762	H1-hESC	embryonic stem cell:	n/a	chr7:48031496-48031515
47	YY1	chr7:48031227-48031806	HepG2	liver:	n/a	chr7:48031595-48031604 chr7:48031542-48031551
48	FOXM1	chr7:48031210-48031850	GM12878	blood:	n/a	n/a
49	NFIC	chr7:48031123-48032097	GM12878	blood:	n/a	n/a
50	POLR2A	chr7:48031276-48031980	GM15510	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:48031086..48031966-chr7:48194039..48195056,3	MCF-7	breast:
2	chr7:48031394..48031943-chr7:48194189..48194981,3	MCF-7	breast:
3	chr7:48016045..48020914-chr7:48030569..48033658,6	K562	blood:
4	chr7:48031095..48033453-chr7:48087493..48089900,2	K562	blood:
5	chr7:48030749..48032126-chr7:48149476..48150428,18	MCF-7	breast:
6	chr7:48029675..48031702-chr7:48142721..48144419,2	MCF-7	breast:
7	chr7:48017886..48020914-chr7:48029520..48034474,4	K562	blood:
8	chr7:48031057..48031968-chr7:48149640..48150841,6	MCF-7	breast:
9	chr7:48031501..48032431-chr7:48127706..48128521,2	MCF-7	breast:

Variant related genes	Relation type
SUN3	TF binding region
ENSG00000183696	Chromatin interaction
ENSG00000136273	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10225968	0.80[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10247913	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10253220	0.89[JPT][hapmap];0.86[EUR][1000 genomes]
rs10253238	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10256256	0.89[JPT][hapmap];0.85[EUR][1000 genomes]
rs10261930	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10951938	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951940	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10951941	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10951942	0.89[JPT][hapmap];0.85[EUR][1000 genomes]
rs11761275	0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11762077	0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11764799	0.84[EUR][1000 genomes]
rs11766144	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11766891	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11767002	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11768277	0.81[CEU][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs11772387	0.80[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes]
rs11773348	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535580	0.81[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes]
rs12537979	0.93[JPT][hapmap]
rs12702405	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12702406	0.85[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes]
rs1318327	0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13230023	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1574242	0.80[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1915960	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1915962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1915965	0.89[JPT][hapmap]
rs1915966	0.81[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes]
rs1915967	0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1915968	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1915971	0.89[JPT][hapmap];0.84[EUR][1000 genomes]
rs1915972	0.88[JPT][hapmap];0.83[EUR][1000 genomes]
rs2037482	0.88[JPT][hapmap];0.85[EUR][1000 genomes]
rs2140113	0.84[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2348666	0.81[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes]
rs2348667	0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2348669	0.85[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap]
rs2348670	0.91[ASN][1000 genomes]
rs2708884	0.82[EUR][1000 genomes]
rs2708885	0.81[EUR][1000 genomes]
rs2708901	0.82[EUR][1000 genomes]
rs2881991	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2881992	0.94[ASN][1000 genomes]
rs4332046	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4618593	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944437	0.81[EUR][1000 genomes]
rs6978838	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6979699	0.83[EUR][1000 genomes]
rs7357251	0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7357327	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7456745	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs7779252	0.84[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7791084	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7791572	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7791823	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7800590	0.83[ASN][1000 genomes]
rs7807611	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7807612	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7807654	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7807750	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7808462	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9690905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[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	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
4	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
5	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
6	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
7	nsv888004	chr7:48028771-48120717	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10951937	C7orf57	cis	Esophagus Mucosa	GTEx
rs10951937	UPP1	cis	Muscle Skeletal	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48030800-48032000	Enhancers	A549	lung
2	chr7:48031000-48031800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr7:48031000-48031800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:48031000-48031800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:48031000-48031800	Active TSS	Primary T cells from cord blood	blood
6	chr7:48031000-48032000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:48031000-48032200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:48031000-48032200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:48031000-48032200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr7:48031000-48032200	Flanking Active TSS	NHEK	skin
11	chr7:48031200-48031800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:48031200-48031800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:48031200-48031800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr7:48031200-48031800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:48031200-48031800	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr7:48031200-48031800	Active TSS	Primary monocytes fromperipheralblood	blood
17	chr7:48031200-48031800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr7:48031200-48031800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:48031200-48031800	Active TSS	Duodenum Mucosa	Duodenum
20	chr7:48031200-48031800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr7:48031200-48031800	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr7:48031200-48032000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:48031200-48032000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:48031200-48032000	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr7:48031200-48032000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:48031200-48032000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:48031200-48032000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr7:48031200-48032000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr7:48031200-48032000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:48031200-48032000	Active TSS	Brain Anterior Caudate	brain
31	chr7:48031200-48032000	Active TSS	Brain Cingulate Gyrus	brain
32	chr7:48031200-48032000	Active TSS	Brain Germinal Matrix	brain
33	chr7:48031200-48032000	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr7:48031200-48032000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:48031200-48032000	Active TSS	Colon Smooth Muscle	Colon
36	chr7:48031200-48032000	Active TSS	Fetal Brain Female	brain
37	chr7:48031200-48032000	Enhancers	Fetal Heart	heart
38	chr7:48031200-48032000	Active TSS	Fetal Kidney	kidney
39	chr7:48031200-48032000	Flanking Active TSS	Fetal Thymus	thymus
40	chr7:48031200-48032000	Active TSS	Psoas Muscle	Psoas
41	chr7:48031200-48032000	Active TSS	Right Ventricle	heart
42	chr7:48031200-48032000	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr7:48031200-48032000	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr7:48031200-48032000	Flanking Active TSS	HepG2	liver
45	chr7:48031200-48032000	Flanking Active TSS	HUVEC	blood vessel
46	chr7:48031200-48032000	Flanking Active TSS	NH-A	brain
47	chr7:48031200-48032000	Active TSS	NHDF-Ad	bronchial
48	chr7:48031200-48032200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:48031200-48032200	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr7:48031200-48032200	Flanking Active TSS	Primary hematopoietic stem cells	blood

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