Variant report

Variant	rs6980897
Chromosome Location	chr8:120734815-120734816
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120730083..120732961-chr8:120733273..120735732,2	K562	blood:
2	chr8:120728056..120731650-chr8:120733855..120737131,3	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10086597	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10088028	0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs10089043	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10089416	1.00[ASN][1000 genomes]
rs10090726	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs10093746	1.00[ASN][1000 genomes]
rs10095185	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs10095406	1.00[ASN][1000 genomes]
rs10095508	1.00[ASN][1000 genomes]
rs10097203	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097757	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10098362	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs10099163	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10101222	1.00[ASN][1000 genomes]
rs10101391	1.00[ASN][1000 genomes]
rs10101983	1.00[ASN][1000 genomes]
rs10102102	1.00[ASN][1000 genomes]
rs10102508	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10104449	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10105858	1.00[ASN][1000 genomes]
rs10106425	1.00[ASN][1000 genomes]
rs10109941	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs10110853	1.00[ASN][1000 genomes]
rs10505373	1.00[ASN][1000 genomes]
rs12334414	1.00[ASN][1000 genomes]
rs12334539	1.00[ASN][1000 genomes]
rs12334592	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12386813	1.00[ASN][1000 genomes]
rs13439791	0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs1433949	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs16892875	1.00[ASN][1000 genomes]
rs16892935	1.00[EUR][1000 genomes]
rs16893011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893034	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893091	0.82[YRI][hapmap]
rs2139432	1.00[ASN][1000 genomes]
rs2164021	1.00[ASN][1000 genomes]
rs28393075	1.00[ASN][1000 genomes]
rs28436011	1.00[ASN][1000 genomes]
rs28449953	1.00[ASN][1000 genomes]
rs28502370	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28517862	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28529634	1.00[ASN][1000 genomes]
rs28570063	1.00[ASN][1000 genomes]
rs28575743	1.00[ASN][1000 genomes]
rs28579855	1.00[ASN][1000 genomes]
rs28589493	1.00[ASN][1000 genomes]
rs28619538	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28636993	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28637899	1.00[ASN][1000 genomes]
rs28673002	1.00[ASN][1000 genomes]
rs28673290	1.00[ASN][1000 genomes]
rs28678910	1.00[ASN][1000 genomes]
rs28684724	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28701610	1.00[ASN][1000 genomes]
rs28723382	1.00[ASN][1000 genomes]
rs28735236	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28852781	1.00[ASN][1000 genomes]
rs4871774	1.00[ASN][1000 genomes]
rs4871792	1.00[ASN][1000 genomes]
rs55834530	1.00[ASN][1000 genomes]
rs6469842	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6469843	1.00[ASN][1000 genomes]
rs6981151	1.00[ASN][1000 genomes]
rs6984913	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6989284	1.00[ASN][1000 genomes]
rs6989323	1.00[ASN][1000 genomes]
rs6990166	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs6998771	1.00[ASN][1000 genomes]
rs7006490	1.00[ASN][1000 genomes]
rs7009770	1.00[ASN][1000 genomes]
rs7010474	1.00[ASN][1000 genomes]
rs7010646	1.00[ASN][1000 genomes]
rs7010729	1.00[ASN][1000 genomes]
rs7010887	1.00[ASN][1000 genomes]
rs72673603	1.00[ASN][1000 genomes]
rs72673616	1.00[ASN][1000 genomes]
rs72673617	1.00[ASN][1000 genomes]
rs72690149	1.00[ASN][1000 genomes]
rs73702610	1.00[ASN][1000 genomes]
rs7831321	1.00[ASN][1000 genomes]
rs7833422	1.00[ASN][1000 genomes]
rs7843034	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7843631	1.00[ASN][1000 genomes]
rs956748	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs9656932	1.00[ASN][1000 genomes]
rs9693192	1.00[ASW][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs9987078	1.00[ASN][1000 genomes]
rs9987272	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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120719400-120779600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:120722200-120741400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:120730400-120743200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:120730600-120743800	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:120730600-120750800	Weak transcription	HSMMtube	muscle
6	chr8:120730800-120744400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:120730800-120753600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:120731400-120735400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:120731400-120742800	Weak transcription	Osteobl	bone
10	chr8:120731600-120735400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:120731600-120735400	Enhancers	Adipose Nuclei	Adipose
12	chr8:120731800-120735600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr8:120731800-120738000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:120731800-120741600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:120731800-120743800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:120733200-120735200	Enhancers	HUVEC	blood vessel
17	chr8:120733400-120735800	Enhancers	Fetal Intestine Small	intestine
18	chr8:120733400-120736200	Enhancers	Duodenum Mucosa	Duodenum
19	chr8:120733600-120735000	Enhancers	Stomach Mucosa	stomach
20	chr8:120733600-120735000	Enhancers	NHDF-Ad	bronchial
21	chr8:120733600-120735200	Enhancers	HepG2	liver
22	chr8:120733800-120741600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:120733800-120768600	Weak transcription	Colonic Mucosa	Colon
24	chr8:120734200-120743600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:120734200-120743800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:120734400-120735000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:120734400-120735600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr8:120734400-120739000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:120734400-120741400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:120734400-120743400	Weak transcription	Left Ventricle	heart
31	chr8:120734400-120743600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:120734400-120743600	Weak transcription	Hela-S3	cervix
33	chr8:120734400-120744000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:120734600-120735000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:120734600-120735400	Enhancers	Fetal Intestine Large	intestine
36	chr8:120734600-120742000	Weak transcription	HSMM	muscle
37	chr8:120734600-120743600	Weak transcription	Fetal Lung	lung
38	chr8:120734600-120743800	Weak transcription	Ovary	ovary
39	chr8:120734600-120747400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:120734600-120779600	Weak transcription	Gastric	stomach
41	chr8:120734800-120736600	Enhancers	Brain Substantia Nigra	brain
42	chr8:120734800-120739800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:120734800-120742600	Weak transcription	Liver	Liver
44	chr8:120734800-120743600	Weak transcription	Muscle Satellite Cultured Cells	--

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