Variant report

Variant	rs6941331
Chromosome Location	chr6:49445320-49445321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:49429532..49432172-chr6:49444762..49446300,2	K562	blood:
2	chr6:49444826..49447432-chr6:49451327..49454178,2	K562	blood:

Variant related genes	Relation type
ENSG00000146085	Chromatin interaction
ENSG00000031691	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs13215471	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024959	chr6:49290141-49652124	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021136	chr6:49295037-49631278	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers 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	nsv603081	chr6:49421241-49446233	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv603082	chr6:49421241-49446509	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv603083	chr6:49429706-49446233	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv603084	chr6:49429706-49446509	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv603085	chr6:49429706-49450341	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv441996	chr6:49431565-49447295	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv603088	chr6:49431569-49446504	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv603089	chr6:49431569-49446509	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv2763934	chr6:49431569-49447295	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv603090	chr6:49431569-49447295	Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv1019611	chr6:49431569-49470663	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	nsv885881	chr6:49439805-49575141	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	esv3424715	chr6:49443893-49446291	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49431600-49449200	Weak transcription	Spleen	Spleen
2	chr6:49431800-49449000	Weak transcription	Esophagus	oesophagus
3	chr6:49431800-49456400	Weak transcription	Placenta	Placenta
4	chr6:49431800-49456600	Weak transcription	Left Ventricle	heart
5	chr6:49431800-49461200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:49431800-49462000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr6:49432000-49451400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:49432000-49456200	Weak transcription	Brain Anterior Caudate	brain
9	chr6:49432000-49456400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:49432000-49457600	Weak transcription	HSMM	muscle
11	chr6:49432000-49459600	Weak transcription	Small Intestine	intestine
12	chr6:49432000-49462000	Weak transcription	Brain Angular Gyrus	brain
13	chr6:49432000-49463000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr6:49432200-49449200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:49432200-49449200	Weak transcription	Fetal Intestine Small	intestine
16	chr6:49432200-49449400	Weak transcription	Ovary	ovary
17	chr6:49432200-49449600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:49432200-49452400	Weak transcription	Primary T cells from cord blood	blood
19	chr6:49432200-49456200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:49432200-49456400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr6:49432200-49456400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:49432200-49456600	Weak transcription	NH-A	brain
23	chr6:49432200-49457400	Weak transcription	Brain Germinal Matrix	brain
24	chr6:49432200-49461600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:49432200-49462400	Weak transcription	Fetal Lung	lung
26	chr6:49432200-49462800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:49432200-49463800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:49432200-49465000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr6:49432400-49448800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:49432400-49456400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:49432600-49456000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:49432600-49456000	Weak transcription	HMEC	breast
33	chr6:49432600-49456400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:49432600-49456400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr6:49432600-49456800	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:49432600-49460600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr6:49432600-49472000	Weak transcription	NHEK	skin
38	chr6:49433200-49459600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr6:49433200-49461200	Weak transcription	NHDF-Ad	bronchial
40	chr6:49433600-49449400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:49433600-49458600	Weak transcription	Hela-S3	cervix
42	chr6:49433800-49446000	Weak transcription	Primary B cells from cord blood	blood
43	chr6:49434200-49456400	Weak transcription	GM12878-XiMat	blood
44	chr6:49437400-49456400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr6:49439400-49446600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr6:49439400-49456600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr6:49440400-49449400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:49440400-49460000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr6:49440400-49465200	Weak transcription	HUVEC	blood vessel
50	chr6:49440800-49455200	Weak transcription	Primary T cells fromperipheralblood	blood

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