Variant report

Variant	rs34953365
Chromosome Location	chr6:5001274-5001275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4991690..4994969-chr6:5000168..5002505,4	K562	blood:
2	chr6:4995264..4998093-chr6:5000328..5002613,2	K562	blood:
3	chr6:4980886..4983187-chr6:5000128..5002637,2	K562	blood:
4	chr6:4948514..4950542-chr6:5000037..5002807,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1246938	1.00[ASN][1000 genomes]
rs13197142	1.00[ASN][1000 genomes]
rs17285799	1.00[ASN][1000 genomes]
rs17285820	1.00[ASN][1000 genomes]
rs34291130	1.00[ASN][1000 genomes]
rs4959322	1.00[ASN][1000 genomes]
rs73719720	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer 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	19 gene(s)	inside rSNPs	diseases
5	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1033905	chr6:4955826-5080904	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4985600-5003000	Weak transcription	HUVEC	blood vessel
2	chr6:4985600-5003200	Weak transcription	Hela-S3	cervix
3	chr6:4985800-5003600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:4987600-5003000	Weak transcription	GM12878-XiMat	blood
5	chr6:4987600-5003600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:4988000-5001400	Weak transcription	NHEK	skin
7	chr6:4988200-5003600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:4988800-5003600	Weak transcription	HMEC	breast
9	chr6:4989200-5003600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr6:4990000-5003600	Weak transcription	Fetal Lung	lung
11	chr6:4990400-5003600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:4990400-5003600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:4990800-5003000	Weak transcription	Fetal Heart	heart
14	chr6:4990800-5003600	Weak transcription	Right Ventricle	heart
15	chr6:4991000-5002600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:4991200-5002400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:4992200-5003400	Weak transcription	NH-A	brain
18	chr6:4992400-5003600	Weak transcription	Small Intestine	intestine
19	chr6:4992800-5003600	Weak transcription	Brain Germinal Matrix	brain
20	chr6:4993000-5003600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:4993400-5002400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:4993400-5003400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:4993600-5003600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:4993600-5003600	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:4994400-5003600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:4994600-5002200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:4994600-5002400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:4994600-5002400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:4994600-5003600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr6:4994800-5002400	Strong transcription	Adipose Nuclei	Adipose
31	chr6:4994800-5002400	Strong transcription	Liver	Liver
32	chr6:4995000-5002200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:4995200-5001600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr6:4995200-5003000	Weak transcription	Fetal Brain Female	brain
35	chr6:4995200-5003600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr6:4995400-5001400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:4995400-5001400	Weak transcription	Brain Substantia Nigra	brain
38	chr6:4996400-5002400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr6:4996400-5002400	Strong transcription	Fetal Stomach	stomach
40	chr6:4996400-5003600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr6:4996600-5001600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr6:4997000-5003600	Weak transcription	Fetal Kidney	kidney
43	chr6:4997200-5003200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:4997200-5003600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:4997600-5003400	Weak transcription	Colonic Mucosa	Colon
46	chr6:4997600-5003600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr6:4997800-5001400	Weak transcription	HSMM	muscle
48	chr6:4997800-5001800	Weak transcription	Aorta	Aorta
49	chr6:4997800-5002400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:4997800-5003600	Weak transcription	Ovary	ovary

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