Variant report

Variant	rs6469854
Chromosome Location	chr8:120861966-120861967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120861662..120864279-chr8:120866095..120869634,3	K562	blood:
2	chr8:120855437..120859614-chr8:120861545..120865499,3	K562	blood:
3	chr8:120861022..120863543-chr8:120864373..120868207,3	K562	blood:
4	chr8:120842950..120845153-chr8:120860865..120862908,2	K562	blood:
5	chr8:120858278..120860311-chr8:120861873..120863745,2	K562	blood:
6	chr8:120861893..120864133-chr8:120866466..120869041,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136982	Chromatin interaction
ENSG00000064313	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10088232	0.81[ASN][1000 genomes]
rs10096846	0.81[ASN][1000 genomes]
rs10101278	0.83[ASN][1000 genomes]
rs10109718	0.82[ASN][1000 genomes]
rs10109808	0.81[ASN][1000 genomes]
rs10109901	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10109951	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10110061	0.83[ASN][1000 genomes]
rs10110601	0.82[ASN][1000 genomes]
rs10113562	0.85[ASN][1000 genomes]
rs10505374	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1055131	0.86[ASN][1000 genomes]
rs1055133	0.86[ASN][1000 genomes]
rs11985300	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11989053	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12155707	0.80[ASN][1000 genomes]
rs12542706	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12543087	0.82[ASN][1000 genomes]
rs12545479	0.89[ASN][1000 genomes]
rs12707880	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13258336	0.84[ASN][1000 genomes]
rs13272214	0.89[ASN][1000 genomes]
rs14027	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1433951	0.82[ASN][1000 genomes]
rs1567359	0.82[ASN][1000 genomes]
rs16893109	0.81[ASN][1000 genomes]
rs16893140	0.81[ASN][1000 genomes]
rs1960438	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1960439	0.87[ASN][1000 genomes]
rs1976575	0.84[ASN][1000 genomes]
rs2043430	0.82[ASN][1000 genomes]
rs2063282	0.81[ASN][1000 genomes]
rs2326378	0.81[ASN][1000 genomes]
rs2634	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28486048	0.87[ASN][1000 genomes]
rs28715681	0.85[ASN][1000 genomes]
rs28736344	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28756749	0.85[ASN][1000 genomes]
rs34718068	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35103910	0.83[ASN][1000 genomes]
rs35148850	0.81[ASN][1000 genomes]
rs35496588	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35954443	0.81[ASN][1000 genomes]
rs3812463	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4870955	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4870956	0.82[ASN][1000 genomes]
rs4871578	0.81[ASN][1000 genomes]
rs4871599	0.82[ASN][1000 genomes]
rs4871634	0.86[ASN][1000 genomes]
rs4871640	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4871642	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4871648	0.82[ASN][1000 genomes]
rs4871659	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871660	0.88[ASN][1000 genomes]
rs6469849	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6469852	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6469853	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67905698	0.83[ASN][1000 genomes]
rs6983932	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989559	0.84[ASN][1000 genomes]
rs6989791	0.80[ASN][1000 genomes]
rs6992109	0.86[ASN][1000 genomes]
rs6996250	0.82[ASN][1000 genomes]
rs7001182	0.84[ASN][1000 genomes]
rs7009073	0.83[ASN][1000 genomes]
rs7011974	0.81[ASN][1000 genomes]
rs7017279	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7813651	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7813680	0.86[ASN][1000 genomes]
rs7827482	0.82[ASN][1000 genomes]
rs7833112	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7833490	0.80[ASN][1000 genomes]
rs7837589	0.85[ASN][1000 genomes]
rs7843304	0.83[ASN][1000 genomes]
rs9693207	0.81[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	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
2	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
3	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
4	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
5	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
6	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
7	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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120845600-120865600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:120845600-120867400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:120846000-120867200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:120846200-120865600	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:120846200-120865600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:120846200-120865800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:120846200-120866000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:120846200-120867000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:120846200-120867000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:120846200-120867000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr8:120846200-120867000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:120846200-120867000	Weak transcription	Osteobl	bone
13	chr8:120846200-120867200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr8:120846200-120867200	Weak transcription	Right Ventricle	heart
15	chr8:120846200-120867400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:120846200-120867600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:120846200-120867600	Weak transcription	Gastric	stomach
18	chr8:120846200-120867600	Weak transcription	Pancreas	Pancrea
19	chr8:120846400-120866800	Weak transcription	Primary B cells from cord blood	blood
20	chr8:120846400-120867000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:120846400-120867200	Weak transcription	Liver	Liver
22	chr8:120846600-120866000	Weak transcription	HepG2	liver
23	chr8:120846600-120867000	Weak transcription	Primary T cells from cord blood	blood
24	chr8:120846800-120866400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:120847400-120867000	Weak transcription	HSMM	muscle
26	chr8:120847800-120863000	Strong transcription	Dnd41	blood
27	chr8:120850200-120866400	Weak transcription	NHLF	lung
28	chr8:120850200-120866800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:120850200-120866800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:120850200-120866800	Weak transcription	Fetal Brain Male	brain
31	chr8:120850200-120867400	Weak transcription	Ovary	ovary
32	chr8:120850400-120866600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:120850400-120867200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr8:120850400-120867600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:120850600-120866600	Weak transcription	HMEC	breast
36	chr8:120850600-120867000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:120850800-120867000	Weak transcription	Fetal Brain Female	brain
38	chr8:120852200-120866800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:120852200-120866800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr8:120852200-120866800	Weak transcription	NHEK	skin
41	chr8:120852400-120866800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:120852600-120862800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:120852600-120866200	Weak transcription	A549	lung
44	chr8:120852600-120866800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr8:120852600-120867000	Weak transcription	Adipose Nuclei	Adipose
46	chr8:120852600-120867200	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:120852800-120865600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:120852800-120865800	Weak transcription	Thymus	Thymus
49	chr8:120852800-120866200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:120852800-120866800	Weak transcription	Fetal Intestine Large	intestine

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