Variant report

Variant	rs6915069
Chromosome Location	chr6:37517045-37517046
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	POLR2A	chr6:37516885-37517471	GM12878	blood:	n/a	n/a
2	PML	chr6:37516090-37518231	GM12878	blood:	n/a	n/a
3	MTA3	chr6:37516811-37518136	GM12878	blood:	n/a	n/a
4	TCF3	chr6:37516811-37517255	GM12878	blood:	n/a	n/a
5	EGR1	chr6:37516869-37517072	K562	blood:	n/a	chr6:37516992-37517006
6	RUNX3	chr6:37516770-37517849	GM12878	blood:	n/a	n/a
7	EGR1	chr6:37516858-37517057	GM12878	blood:	n/a	chr6:37516992-37517006
8	POLR2A	chr6:37516793-37517454	GM12892	blood:	n/a	n/a
9	TAF1	chr6:37516845-37517222	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:37516991-37517403	GM12878	blood:	n/a	n/a
11	STAT5A	chr6:37516638-37517566	GM12878	blood:	n/a	chr6:37517283-37517291
12	NFIC	chr6:37516811-37517522	GM12878	blood:	n/a	n/a
13	POLR2A	chr6:37516850-37517629	GM12892	blood:	n/a	n/a
14	MTA3	chr6:37516431-37518190	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:37516802-37517383	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37509394..37511566-chr6:37516140..37517910,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL353597.1-3	chr6:37516759-37518195	NONHSAT112271

Variant related genes	Relation type
ENSG00000229559	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10456454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10807185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10947677	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2797785	0.94[CHB][hapmap];0.89[ASN][1000 genomes]
rs4714075	0.81[CHB][hapmap]
rs6457993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921307	0.81[CEU][hapmap]
rs7741390	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7741865	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1016310	chr6:37473075-37528469	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	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
4	nsv462914	chr6:37502585-37517485	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv602954	chr6:37502585-37517485	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1006017	chr6:37516345-37530226	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37504400-37529200	Weak transcription	Right Atrium	heart
2	chr6:37507800-37520000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:37510800-37533800	Enhancers	Primary B cells from peripheral blood	blood
4	chr6:37512600-37518000	Enhancers	Primary B cells from cord blood	blood
5	chr6:37513600-37517400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr6:37513800-37517600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:37514200-37521400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:37514200-37522800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:37514400-37519600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:37514400-37520000	Weak transcription	A549	lung
11	chr6:37514400-37520400	Enhancers	Fetal Thymus	thymus
12	chr6:37514400-37521400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr6:37515000-37521200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:37515200-37517200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr6:37515200-37517400	Enhancers	Thymus	Thymus
16	chr6:37515800-37518000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:37516000-37517800	Weak transcription	Adipose Nuclei	Adipose
18	chr6:37516000-37518200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:37516000-37519400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:37516000-37519600	Weak transcription	Fetal Brain Female	brain
21	chr6:37516000-37519800	Weak transcription	Brain Germinal Matrix	brain
22	chr6:37516000-37521000	Weak transcription	Primary T cells from cord blood	blood
23	chr6:37516000-37521200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:37516000-37521200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr6:37516200-37518200	Weak transcription	NH-A	brain
26	chr6:37516200-37520800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:37516200-37521200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr6:37516200-37521200	Weak transcription	Fetal Kidney	kidney
29	chr6:37516200-37521400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:37516400-37517800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr6:37516400-37518000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:37516400-37519400	Weak transcription	HUVEC	blood vessel
33	chr6:37516400-37520200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:37516400-37520800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr6:37516400-37520800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:37516400-37527000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr6:37516600-37518200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:37516600-37518200	Weak transcription	NHEK	skin
39	chr6:37516600-37519000	Weak transcription	HMEC	breast
40	chr6:37516600-37521200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr6:37516600-37521400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr6:37516800-37517600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:37516800-37517800	Flanking Active TSS	GM12878-XiMat	blood
44	chr6:37517000-37517200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:37517000-37517400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:37517000-37517800	Enhancers	Fetal Brain Male	brain

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