Variant report

Variant	rs836493
Chromosome Location	chr7:6416303-6416304
allele	C/T
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: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1647224	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs702482	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs836474	0.94[AMR][1000 genomes]
rs836479	0.81[ASN][1000 genomes]
rs836486	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs836488	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs836490	0.92[AMR][1000 genomes];0.83[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

No data

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	chr7:6413200-6416400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:6413200-6416600	Active TSS	HepG2	liver
7	chr7:6413400-6416400	Active TSS	Fetal Intestine Small	intestine
8	chr7:6413400-6416600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr7:6413400-6416600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:6413600-6416400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:6413600-6416400	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr7:6413600-6416400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:6413600-6416400	Active TSS	NHEK	skin
14	chr7:6413600-6416600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:6413600-6416600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:6413600-6416600	Active TSS	Left Ventricle	heart
17	chr7:6413600-6416600	Active TSS	Right Atrium	heart
18	chr7:6413600-6416600	Active TSS	HSMM	muscle
19	chr7:6413600-6416600	Active TSS	NHLF	lung
20	chr7:6413600-6417000	Active TSS	Esophagus	oesophagus
21	chr7:6413600-6417200	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr7:6413800-6416400	Active TSS	HMEC	breast
23	chr7:6413800-6416400	Active TSS	HUVEC	blood vessel
24	chr7:6413800-6416600	Active TSS	Right Ventricle	heart
25	chr7:6414400-6417200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:6414600-6416400	Active TSS	A549	lung
27	chr7:6415200-6416600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:6415200-6416600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:6415400-6417000	Weak transcription	Spleen	Spleen
30	chr7:6415400-6417200	Enhancers	Primary B cells from peripheral blood	blood
31	chr7:6415600-6416400	Weak transcription	Small Intestine	intestine
32	chr7:6415600-6416600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:6415600-6416600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:6415600-6416600	Weak transcription	Gastric	stomach
35	chr7:6415600-6416600	Weak transcription	Pancreas	Pancrea
36	chr7:6415600-6416800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr7:6415600-6417800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:6415600-6418000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr7:6415600-6418200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:6415600-6423800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:6415800-6416400	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr7:6415800-6416400	Active TSS	Adipose Nuclei	Adipose
43	chr7:6415800-6416400	Enhancers	Brain Cingulate Gyrus	brain
44	chr7:6415800-6416400	Active TSS	Brain Hippocampus Middle	brain
45	chr7:6415800-6416400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr7:6415800-6416400	Weak transcription	Stomach Mucosa	stomach
47	chr7:6415800-6416400	Active TSS	Hela-S3	cervix
48	chr7:6415800-6416600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:6415800-6416600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:6415800-6416600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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