Variant report

Variant	rs73422843
Chromosome Location	chr6:38287587-38287588
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38275306..38278894-chr6:38287022..38290918,3	MCF-7	breast:
2	chr6:38286667..38288698-chr6:38291233..38294146,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11964509	1.00[EUR][1000 genomes]
rs11967720	1.00[EUR][1000 genomes]
rs57211386	1.00[EUR][1000 genomes]
rs58257452	1.00[EUR][1000 genomes]
rs60395126	1.00[EUR][1000 genomes]
rs73420801	1.00[EUR][1000 genomes]
rs73422820	1.00[EUR][1000 genomes]
rs73422823	1.00[EUR][1000 genomes]
rs73422832	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73422841	1.00[EUR][1000 genomes]
rs73422846	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73422848	0.80[AFR][1000 genomes]
rs7748763	1.00[EUR][1000 genomes]
rs7763951	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38274400-38288600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr6:38275400-38301200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:38276000-38287600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:38276000-38287800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:38278000-38310600	Weak transcription	Gastric	stomach
6	chr6:38278200-38288000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:38278200-38295000	Weak transcription	Lung	lung
8	chr6:38278400-38305400	Weak transcription	Pancreas	Pancrea
9	chr6:38282600-38301400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:38283000-38304000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr6:38284200-38296000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr6:38284400-38287600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr6:38284800-38301200	Weak transcription	Fetal Intestine Small	intestine
14	chr6:38285000-38327800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:38285200-38288200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr6:38285400-38287600	Enhancers	GM12878-XiMat	blood
17	chr6:38286200-38287600	Strong transcription	Primary T cells from cord blood	blood
18	chr6:38286400-38287600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:38286600-38287600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:38286600-38287600	Enhancers	NHEK	skin
21	chr6:38286600-38288000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:38286600-38288000	Enhancers	Placenta	Placenta
23	chr6:38286800-38287600	Enhancers	HMEC	breast
24	chr6:38286800-38288000	Enhancers	HSMMtube	muscle
25	chr6:38286800-38290000	Enhancers	Fetal Muscle Leg	muscle
26	chr6:38286800-38291000	Weak transcription	Psoas Muscle	Psoas
27	chr6:38286800-38295400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:38287200-38288000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:38287200-38288000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr6:38287200-38288000	Enhancers	Fetal Muscle Trunk	muscle
31	chr6:38287200-38289400	Enhancers	Brain Anterior Caudate	brain
32	chr6:38287400-38287800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr6:38287400-38288000	Enhancers	Brain Cingulate Gyrus	brain
34	chr6:38287400-38288400	Weak transcription	Fetal Stomach	stomach
35	chr6:38287400-38289200	Enhancers	Brain Substantia Nigra	brain
36	chr6:38287400-38289400	Enhancers	Brain Germinal Matrix	brain
37	chr6:38287400-38289600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:38287400-38301200	Weak transcription	Primary B cells from cord blood	blood

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