Variant report

Variant	rs765642
Chromosome Location	chr1:70787953-70787954
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70786838..70788846-chr1:70818931..70822142,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118454	Chromatin interaction
ENSG00000197568	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12121935	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121995	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12130544	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135182	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135469	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12141753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12146132	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3795695	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55863806	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61782673	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782675	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014292	chr1:70689215-70799065	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv1012563	chr1:70753332-70832118	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	esv1792702	chr1:70755511-70818576	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1801665	chr1:70755511-70832053	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv871430	chr1:70765659-70819912	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv830137	chr1:70765921-70958718	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70688000-70819200	Weak transcription	Esophagus	oesophagus
2	chr1:70716800-70815800	Weak transcription	Brain Angular Gyrus	brain
3	chr1:70717800-70788200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:70734400-70813000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:70752800-70793400	Weak transcription	Gastric	stomach
6	chr1:70757000-70799800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:70757400-70813200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:70757800-70799400	Weak transcription	Brain Germinal Matrix	brain
9	chr1:70757800-70812400	Weak transcription	Fetal Brain Male	brain
10	chr1:70760200-70799800	Weak transcription	Lung	lung
11	chr1:70760400-70802400	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:70760400-70813200	Weak transcription	Fetal Brain Female	brain
13	chr1:70760600-70818200	Weak transcription	Aorta	Aorta
14	chr1:70760600-70818600	Weak transcription	Thymus	Thymus
15	chr1:70762000-70817600	Weak transcription	NHLF	lung
16	chr1:70762200-70818200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:70765400-70799200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:70765600-70818200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:70765800-70788200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:70765800-70799400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:70765800-70812200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:70767400-70789800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:70767600-70788000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:70767600-70798600	Weak transcription	K562	blood
25	chr1:70767800-70789800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:70767800-70799200	Weak transcription	Placenta	Placenta
27	chr1:70767800-70819000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:70768200-70817000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:70770400-70809200	Weak transcription	Ovary	ovary
30	chr1:70770400-70817200	Weak transcription	Pancreas	Pancrea
31	chr1:70773400-70799200	Weak transcription	HepG2	liver
32	chr1:70773600-70818200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:70773800-70818200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:70774000-70788600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:70774200-70799000	Weak transcription	Fetal Lung	lung
36	chr1:70774200-70815200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:70774200-70818000	Weak transcription	Fetal Kidney	kidney
38	chr1:70774600-70788600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:70774600-70799200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:70775000-70788200	Weak transcription	Adipose Nuclei	Adipose
41	chr1:70775000-70788400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr1:70775000-70790000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr1:70775200-70788200	Weak transcription	Fetal Intestine Large	intestine
44	chr1:70775200-70799200	Weak transcription	Fetal Muscle Leg	muscle
45	chr1:70777200-70799600	Weak transcription	Primary T cells from cord blood	blood
46	chr1:70777200-70799600	Weak transcription	Left Ventricle	heart
47	chr1:70777400-70788200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:70779200-70789000	Weak transcription	Dnd41	blood
49	chr1:70779600-70789600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:70781200-70805400	Weak transcription	Brain Substantia Nigra	brain

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