Variant report

Variant	rs7769449
Chromosome Location	chr6:35656129-35656130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35649127..35664209-chr6:35693738..35704622,45	K562	blood:
2	chr6:35655179..35657311-chr6:35699143..35705251,6	MCF-7	breast:
3	chr6:35654589..35656249-chr6:35685237..35687965,2	K562	blood:
4	chr6:35630752..35636758-chr6:35653263..35658179,9	K562	blood:
5	chr6:35654784..35658036-chr6:35702203..35706321,5	MCF-7	breast:
6	chr6:35511219..35512849-chr6:35653917..35656279,2	MCF-7	breast:
7	chr6:35654560..35658324-chr6:35694292..35699560,11	MCF-7	breast:
8	chr15:75660565..75661351-chr6:35656003..35656976,2	Hela-S3	cervix:
9	chr6:35653875..35657933-chr6:35692950..35698749,12	MCF-7	breast:
10	chr6:35464601..35467910-chr6:35655207..35659461,3	K562	blood:
11	chr6:35463571..35465690-chr6:35654249..35656915,2	K562	blood:
12	chr6:35649031..35660636-chr6:35692310..35701686,35	K562	blood:
13	chr6:35654156..35657013-chr6:35704693..35707749,4	K562	blood:
14	chr6:35590466..35592816-chr6:35654896..35656515,2	MCF-7	breast:
15	chr12:121837205..121837751-chr6:35656008..35656965,2	NB4	blood:

No data

Variant related genes	Relation type
ENSG00000232909	Chromatin interaction
ENSG00000096060	Chromatin interaction
ENSG00000007866	Chromatin interaction
ENSG00000089053	Chromatin interaction
ENSG00000228559	Chromatin interaction
ENSG00000265527	Chromatin interaction
ENSG00000140400	Chromatin interaction
ENSG00000157343	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11969123	1.00[AFR][1000 genomes]
rs6923648	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv602924	chr6:35505311-35750299	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv885801	chr6:35537406-35671651	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv3430300	chr6:35549151-35959004	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv5258	chr6:35601724-35658344	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv821646	chr6:35604428-35802594	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv885802	chr6:35621781-35787417	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
9	nsv885803	chr6:35621781-35805133	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv885804	chr6:35621781-35809776	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	esv1851034	chr6:35626500-35656400	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
12	esv1840748	chr6:35629669-35656400	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
13	nsv428143	chr6:35637083-35806504	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
14	esv14568	chr6:35655914-35656759	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35652200-35657000	Active TSS	Psoas Muscle	Psoas
2	chr6:35652800-35656400	Active TSS	Right Atrium	heart
3	chr6:35652800-35656800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr6:35652800-35656800	Active TSS	Ovary	ovary
5	chr6:35652800-35656800	Active TSS	Right Ventricle	heart
6	chr6:35652800-35657000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:35653400-35656800	Active TSS	Muscle Satellite Cultured Cells	--
8	chr6:35653400-35656800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:35653400-35656800	Active TSS	Stomach Smooth Muscle	stomach
10	chr6:35653400-35657000	Active TSS	NHEK	skin
11	chr6:35653600-35656800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:35653600-35656800	Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr6:35653600-35656800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr6:35653600-35656800	Active TSS	HMEC	breast
15	chr6:35653800-35656800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr6:35653800-35656800	Active TSS	Liver	Liver
17	chr6:35653800-35656800	Active TSS	GM12878-XiMat	blood
18	chr6:35653800-35656800	Active TSS	K562	blood
19	chr6:35653800-35657000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:35653800-35657000	Active TSS	Brain Substantia Nigra	brain
21	chr6:35653800-35657000	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr6:35654000-35657000	Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr6:35654000-35657000	Active TSS	Brain Anterior Caudate	brain
24	chr6:35654000-35657000	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr6:35654200-35656600	Active TSS	Primary T cells fromperipheralblood	blood
26	chr6:35654200-35656800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:35654200-35656800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:35654200-35657000	Active TSS	Duodenum Mucosa	Duodenum
29	chr6:35654400-35656400	Active TSS	Colonic Mucosa	Colon
30	chr6:35654400-35656600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:35654400-35656800	Active TSS	Aorta	Aorta
32	chr6:35654400-35656800	Active TSS	Fetal Thymus	thymus
33	chr6:35654400-35657000	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr6:35654400-35657000	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr6:35654400-35657000	Active TSS	Brain Cingulate Gyrus	brain
36	chr6:35654400-35657000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr6:35654400-35657000	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr6:35654600-35656200	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr6:35654600-35656600	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr6:35654600-35657000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:35654600-35657000	Active TSS	Brain Angular Gyrus	brain
42	chr6:35654600-35657000	Active TSS	Brain Hippocampus Middle	brain
43	chr6:35654600-35657000	Active TSS	HSMM	muscle
44	chr6:35654600-35657000	Active TSS	HSMMtube	muscle
45	chr6:35654800-35656600	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr6:35654800-35656600	Active TSS	Colon Smooth Muscle	Colon
47	chr6:35654800-35656800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:35654800-35656800	Active TSS	Monocytes-CD14+_RO01746	blood
49	chr6:35654800-35657000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:35655000-35656600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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