Variant report

Variant	rs836494
Chromosome Location	chr7:6415934-6415935
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6413015..6417903-chr7:6435938..6439469,5	MCF-7	breast:
2	chr7:6415178..6416975-chr7:6426266..6428182,2	MCF-7	breast:
3	chr7:6412517..6417079-chr7:6439604..6446019,8	MCF-7	breast:
4	chr7:6412666..6416399-chr7:6429961..6432840,4	MCF-7	breast:
5	chr7:6414882..6417650-chr7:6542443..6546000,3	MCF-7	breast:
6	chr7:6387187..6388731-chr7:6415190..6416736,2	K562	blood:

Variant related genes	Relation type
ENSG00000178397	Chromatin interaction
ENSG00000136238	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11976363	0.81[AMR][1000 genomes]
rs2689420	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2742122	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs702483	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs702485	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73057348	0.82[ASN][1000 genomes]
rs7805985	0.80[AMR][1000 genomes]
rs836477	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs836478	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs836480	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs836483	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs836487	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs836489	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs836492	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs836499	0.85[ASN][1000 genomes]
rs836513	0.82[ASN][1000 genomes]
rs836526	0.82[ASN][1000 genomes]
rs836527	0.82[ASN][1000 genomes]
rs836529	0.82[ASN][1000 genomes]
rs836536	0.80[ASN][1000 genomes]
rs836549	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs836551	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs836556	0.85[ASN][1000 genomes]
rs836558	0.85[ASN][1000 genomes]
rs836559	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs861369	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs866278	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv605999	chr7:6396719-6472881	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs836494	RAC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6412800-6416600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr7:6413000-6416400	Active TSS	K562	blood
3	chr7:6413000-6416600	Active TSS	GM12878-XiMat	blood
4	chr7:6413000-6416800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr7:6413200-6416000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr7:6413200-6416400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:6413200-6416600	Active TSS	HepG2	liver
8	chr7:6413400-6416000	Active TSS	Muscle Satellite Cultured Cells	--
9	chr7:6413400-6416400	Active TSS	Fetal Intestine Small	intestine
10	chr7:6413400-6416600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:6413400-6416600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:6413600-6416000	Active TSS	Placenta	Placenta
13	chr7:6413600-6416000	Active TSS	Psoas Muscle	Psoas
14	chr7:6413600-6416200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr7:6413600-6416200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:6413600-6416400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:6413600-6416400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr7:6413600-6416400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:6413600-6416400	Active TSS	NHEK	skin
20	chr7:6413600-6416600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:6413600-6416600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:6413600-6416600	Active TSS	Left Ventricle	heart
23	chr7:6413600-6416600	Active TSS	Right Atrium	heart
24	chr7:6413600-6416600	Active TSS	HSMM	muscle
25	chr7:6413600-6416600	Active TSS	NHLF	lung
26	chr7:6413600-6417000	Active TSS	Esophagus	oesophagus
27	chr7:6413600-6417200	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr7:6413800-6416000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr7:6413800-6416000	Active TSS	Lung	lung
30	chr7:6413800-6416000	Active TSS	NHDF-Ad	bronchial
31	chr7:6413800-6416200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:6413800-6416400	Active TSS	HMEC	breast
33	chr7:6413800-6416400	Active TSS	HUVEC	blood vessel
34	chr7:6413800-6416600	Active TSS	Right Ventricle	heart
35	chr7:6414400-6417200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:6414600-6416400	Active TSS	A549	lung
37	chr7:6414800-6416000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr7:6414800-6416000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:6414800-6416000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:6414800-6416000	Flanking Active TSS	Fetal Thymus	thymus
41	chr7:6414800-6416200	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr7:6415000-6416000	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr7:6415000-6416000	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr7:6415000-6416000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr7:6415000-6416200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr7:6415000-6416200	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr7:6415200-6416200	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr7:6415200-6416600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:6415200-6416600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:6415400-6416000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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