Variant report

Variant	rs6985424
Chromosome Location	chr8:121062976-121062977
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	chr8:121062026..121064422-chr8:121066001..121067878,2	K562	blood:

Variant related genes	Relation type
ENSG00000254343	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11986039	0.85[ASN][1000 genomes]
rs11986628	0.85[ASN][1000 genomes]
rs11993265	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1401810	0.85[ASN][1000 genomes]
rs1401812	0.88[ASN][1000 genomes]
rs1401813	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1543200	0.85[ASN][1000 genomes]
rs1543201	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs1850886	0.82[ASN][1000 genomes]
rs1879150	0.85[ASN][1000 genomes]
rs2037342	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2037343	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2037344	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2139438	0.85[ASN][1000 genomes]
rs2139439	0.87[ASN][1000 genomes]
rs2176748	0.87[ASN][1000 genomes]
rs2176749	0.85[ASN][1000 genomes]
rs2176751	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs2271900	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2326428	0.85[ASN][1000 genomes]
rs2326430	0.87[ASN][1000 genomes]
rs2326433	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2326434	0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2875927	0.87[ASN][1000 genomes]
rs2875932	0.86[ASN][1000 genomes]
rs28885745	0.85[ASN][1000 genomes]
rs4053282	0.81[CHB][hapmap]
rs4086915	0.85[ASN][1000 genomes]
rs4348544	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4621850	0.84[ASN][1000 genomes]
rs4871031	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs4871032	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4871819	0.82[CHB][hapmap]
rs4871824	0.82[CHB][hapmap]
rs6469882	0.81[CHB][hapmap];0.85[ASN][1000 genomes]
rs6469888	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs6469891	0.88[ASN][1000 genomes]
rs6469893	0.84[ASN][1000 genomes]
rs6997910	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7012522	0.88[ASN][1000 genomes]
rs7386139	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs7387672	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs7464941	0.86[ASN][1000 genomes]
rs7813264	0.86[ASN][1000 genomes]
rs7817075	0.84[CEU][hapmap];0.86[ASN][1000 genomes]
rs7817379	0.88[ASN][1000 genomes]
rs7821583	0.82[CEU][hapmap];0.86[ASN][1000 genomes]
rs7821842	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7822000	0.86[ASN][1000 genomes]
rs7822384	0.94[CEU][hapmap];0.93[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7824637	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7829279	0.85[ASN][1000 genomes]
rs7832657	0.86[ASN][1000 genomes]
rs7836786	0.83[CHB][hapmap]
rs7840668	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7845541	0.94[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7846263	0.84[CEU][hapmap];0.88[ASN][1000 genomes]
rs867709	0.86[ASN][1000 genomes]
rs9297609	1.00[CHB][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121017000-121067000	Weak transcription	Brain Anterior Caudate	brain
2	chr8:121022400-121065400	Weak transcription	Left Ventricle	heart
3	chr8:121036000-121063800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:121042000-121063400	Weak transcription	Spleen	Spleen
5	chr8:121046200-121065200	Weak transcription	Psoas Muscle	Psoas
6	chr8:121048800-121063600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:121048800-121063600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:121049200-121072800	Weak transcription	Fetal Lung	lung
9	chr8:121049200-121072800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:121053600-121064000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:121053600-121067200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:121053600-121072800	Weak transcription	Brain Angular Gyrus	brain
13	chr8:121053600-121072800	Weak transcription	Brain Substantia Nigra	brain
14	chr8:121053600-121072800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:121053800-121072800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:121058400-121065400	Weak transcription	Pancreas	Pancrea
17	chr8:121058400-121066200	Weak transcription	Gastric	stomach
18	chr8:121059400-121077800	Weak transcription	Fetal Stomach	stomach
19	chr8:121059600-121064600	Weak transcription	Fetal Intestine Small	intestine
20	chr8:121060600-121063600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:121060600-121064400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr8:121060600-121085000	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:121060800-121063200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr8:121060800-121072800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:121061000-121063000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:121061000-121063000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr8:121061000-121064000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr8:121061000-121064000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:121061000-121064200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr8:121061000-121064600	Weak transcription	Ovary	ovary
31	chr8:121061000-121065400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:121061000-121072800	Weak transcription	Fetal Kidney	kidney
33	chr8:121061600-121064400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:121061600-121064600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:121061800-121063000	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:121061800-121063000	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:121061800-121064000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:121061800-121064400	Strong transcription	Brain Hippocampus Middle	brain
39	chr8:121061800-121064600	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr8:121061800-121066200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:121062200-121063000	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr8:121062200-121063800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:121062400-121066800	Weak transcription	Adipose Nuclei	Adipose
44	chr8:121062400-121073000	Weak transcription	Fetal Intestine Large	intestine
45	chr8:121062600-121063800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr8:121062600-121064000	Weak transcription	Liver	Liver
47	chr8:121062600-121069800	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:121062600-121072600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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