Variant report

Variant	rs13200310
Chromosome Location	chr6:37786055-37786056
allele	C/T
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	NR2F2	chr6:37786027-37787401	K562	blood:	n/a	n/a
2	POLR2A	chr6:37785988-37787482	HepG2	liver:	n/a	n/a
3	HEY1	chr6:37785808-37787550	K562	blood:	n/a	chr6:37787324-37787339
4	MBD4	chr6:37785768-37787246	HepG2	liver:	n/a	n/a
5	TEAD4	chr6:37785741-37787598	K562	blood:	n/a	n/a
6	POLR2A	chr6:37786001-37787566	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:37786042-37787681	K562	blood:	n/a	n/a
8	MBD4	chr6:37785786-37787021	HepG2	liver:	n/a	n/a
9	JUND	chr6:37785984-37787691	K562	blood:	n/a	chr6:37786227-37786238 chr6:37786718-37786729 chr6:37786227-37786239
10	CUX1	chr6:37786032-37787561	GM12878	blood:	n/a	chr6:37786237-37786248
11	POLR2A	chr6:37785924-37787621	GM12892	blood:	n/a	n/a
12	POLR2A	chr6:37785987-37786992	K562	blood:	n/a	n/a
13	RELA	chr6:37785940-37787214	GM18505	blood:	n/a	n/a
14	NFIC	chr6:37785796-37787620	HepG2	liver:	n/a	n/a
15	POLR2A	chr6:37786053-37787615	K562	blood:	n/a	n/a
16	POLR2A	chr6:37785963-37788374	GM19099	blood:	n/a	n/a
17	MYBL2	chr6:37785939-37787674	HepG2	liver:	n/a	n/a
18	STAT3	chr6:37785959-37787154	GM12878	blood:	n/a	chr6:37786165-37786173 chr6:37786896-37786908 chr6:37786169-37786176 chr6:37786580-37786591 chr6:37786698-37786718
19	POLR2A	chr6:37786033-37787573	K562	blood:	n/a	n/a
20	HCFC1	chr6:37785911-37787835	Hela-S3	cervix:	n/a	n/a
21	SMARCC1	chr6:37785874-37787087	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr6:37785829-37787567	GM12891	blood:	n/a	n/a
23	JUND	chr6:37785773-37787853	SK-N-SH	brain:	n/a	chr6:37786227-37786238 chr6:37786718-37786729 chr6:37786227-37786239
24	IRF1	chr6:37786005-37787422	K562	blood:	n/a	chr6:37786654-37786663 chr6:37787221-37787235
25	POLR2A	chr6:37785964-37787612	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr6:37786050-37788342	GM18951	blood:	n/a	n/a
27	POLR2A	chr6:37785770-37787196	GM12892	blood:	n/a	n/a
28	POLR2A	chr6:37786012-37787458	HepG2	liver:	n/a	n/a
29	POLR2A	chr6:37785801-37787682	GM12892	blood:	n/a	n/a
30	POLR2A	chr6:37786036-37787813	IMR90	lung:	n/a	n/a
31	IRF1	chr6:37785824-37787536	K562	blood:	n/a	chr6:37786654-37786663 chr6:37787221-37787235 chr6:37787490-37787504
32	ELF1	chr6:37786019-37787598	HepG2	liver:	n/a	chr6:37786779-37786790 chr6:37787322-37787334 chr6:37787287-37787299 chr6:37786780-37786789 chr6:37786779-37786790
33	MYBL2	chr6:37785947-37787622	HepG2	liver:	n/a	n/a
34	POLR2A	chr6:37786009-37787599	GM12891	blood:	n/a	n/a
35	FOSL2	chr6:37785946-37786722	HepG2	liver:	n/a	chr6:37786227-37786239
36	FOXA1	chr6:37785771-37786440	HepG2	liver:	n/a	chr6:37785990-37786005 chr6:37785992-37786004
37	SREBP1	chr6:37785941-37787818	GM12878	blood:	n/a	n/a
38	FOXA1	chr6:37785743-37786451	HepG2	liver:	n/a	chr6:37785990-37786005 chr6:37785992-37786004
39	POLR2A	chr6:37786041-37787572	GM12891	blood:	n/a	n/a
40	CUX1	chr6:37785897-37787301	K562	blood:	n/a	chr6:37786237-37786248
41	POLR2A	chr6:37785954-37787820	GM12892	blood:	n/a	n/a
42	POLR2A	chr6:37786054-37786065	HUVEC	blood vessel:	n/a	n/a
43	NR2F2	chr6:37786049-37787279	K562	blood:	n/a	n/a
44	ARID3A	chr6:37785949-37787564	K562	blood:	n/a	n/a
45	POLR2A	chr6:37785964-37788350	GM18505	blood:	n/a	n/a
46	POLR2A	chr6:37785913-37787655	HUVEC	blood vessel:	n/a	n/a
47	MTA3	chr6:37785773-37787621	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:37785997-37787874	ProgFib	skin:	n/a	n/a
49	FOXA1	chr6:37785724-37786446	HepG2	liver:	n/a	chr6:37785990-37786005 chr6:37785992-37786004
50	POLR2A	chr6:37785813-37787605	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:65547207..65547952-chr6:37785670..37786450,2	Hela-S3	cervix:
2	chr6:37759272..37760030-chr6:37786003..37786959,2	K562	blood:
3	chr6:37764739..37766769-chr6:37785115..37786882,2	K562	blood:
4	chr6:37772786..37776209-chr6:37782926..37786197,4	K562	blood:
5	chr6:37757989..37761183-chr6:37784912..37786796,3	MCF-7	breast:

Variant related genes	Relation type
ZFAND3	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11752809	0.91[ASN][1000 genomes]
rs11752814	0.91[ASN][1000 genomes]
rs11753300	0.91[ASN][1000 genomes]
rs11759458	0.91[ASN][1000 genomes]
rs11964613	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11964671	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11968604	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11970017	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11970145	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13190751	0.91[ASN][1000 genomes]
rs13198459	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13203867	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13205214	0.83[ASN][1000 genomes]
rs13207526	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13210967	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13211881	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13218158	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13219500	0.86[EUR][1000 genomes]
rs16890185	0.83[ASN][1000 genomes]
rs16890194	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2103950	0.83[ASN][1000 genomes]
rs2395689	0.86[EUR][1000 genomes]
rs28385568	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs33997846	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34011349	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34123707	0.87[AMR][1000 genomes]
rs34449592	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34611895	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34618835	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34634043	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34745343	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34754573	0.87[AMR][1000 genomes]
rs35051126	0.86[EUR][1000 genomes]
rs35202194	1.00[AMR][1000 genomes]
rs35248825	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35379375	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35465740	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35575717	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35609407	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35653300	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35953900	0.83[EUR][1000 genomes]
rs35955196	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36069529	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4394213	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55943813	0.87[AMR][1000 genomes]
rs55996712	0.83[ASN][1000 genomes]
rs56177150	0.83[ASN][1000 genomes]
rs56391784	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56678832	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6458037	0.87[AMR][1000 genomes]
rs6908106	0.91[ASN][1000 genomes]
rs6908761	0.87[AMR][1000 genomes]
rs6910715	0.83[ASN][1000 genomes]
rs6910837	0.83[EUR][1000 genomes]
rs6911481	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6912250	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6917736	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6918802	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6919884	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6923132	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6923254	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6923665	0.87[AMR][1000 genomes]
rs6925563	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6936260	0.83[ASN][1000 genomes]
rs6940491	1.00[AMR][1000 genomes]
rs71569394	0.87[ASN][1000 genomes]
rs71569395	0.83[EUR][1000 genomes]
rs71569397	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71569399	0.87[AMR][1000 genomes]
rs71569402	0.88[AMR][1000 genomes]
rs7742379	0.83[ASN][1000 genomes]
rs7750445	0.83[ASN][1000 genomes]
rs7760770	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7776025	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37784800-37789000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:37785400-37789200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:37785600-37786400	Flanking Active TSS	Dnd41	blood
4	chr6:37785800-37786200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:37785800-37786200	Flanking Active TSS	Brain Substantia Nigra	brain
6	chr6:37785800-37786200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr6:37785800-37786200	Enhancers	Small Intestine	intestine
8	chr6:37785800-37786400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:37785800-37786400	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr6:37785800-37786400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:37785800-37786400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:37785800-37786400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr6:37785800-37786400	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr6:37785800-37786400	Flanking Active TSS	Fetal Kidney	kidney
15	chr6:37785800-37786400	Flanking Active TSS	Fetal Lung	lung
16	chr6:37785800-37786400	Flanking Active TSS	Hela-S3	cervix
17	chr6:37785800-37786400	Flanking Active TSS	HMEC	breast
18	chr6:37785800-37786400	Flanking Active TSS	NHEK	skin
19	chr6:37785800-37786600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:37785800-37786600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:37785800-37786600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr6:37785800-37786600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr6:37785800-37786600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:37785800-37786600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:37785800-37786600	Flanking Active TSS	Liver	Liver
26	chr6:37785800-37786600	Flanking Active TSS	HUVEC	blood vessel
27	chr6:37785800-37786600	Flanking Active TSS	K562	blood
28	chr6:37785800-37786600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr6:37785800-37786800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr6:37785800-37786800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr6:37785800-37786800	Flanking Active TSS	Fetal Brain Male	brain
32	chr6:37785800-37788400	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr6:37785800-37788400	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr6:37785800-37788600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr6:37785800-37788600	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr6:37785800-37788600	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr6:37785800-37788600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:37785800-37788600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:37785800-37788800	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr6:37785800-37788800	Active TSS	H1 Cell Line	embryonic stem cell
41	chr6:37785800-37788800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:37785800-37788800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:37785800-37788800	Active TSS	A549	lung
44	chr6:37785800-37789000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:37785800-37789200	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr6:37786000-37786200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:37786000-37786200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:37786000-37786200	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr6:37786000-37786200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr6:37786000-37786200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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