Variant report

Variant	rs2321535
Chromosome Location	chr3:156825546-156825547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:156824335..156826980-chr3:156889845..156891844,2	K562	blood:
2	chr3:156814840..156817807-chr3:156824843..156827146,2	K562	blood:
3	chr3:156813972..156815695-chr3:156823705..156826230,2	MCF-7	breast:
4	chr3:156393308..156394867-chr3:156824794..156827171,2	K562	blood:
5	chr3:156393308..156395155-chr3:156824794..156827365,2	K562	blood:
6	chr3:156825505..156827069-chr3:156837725..156839801,2	K562	blood:

Variant related genes	Relation type
ENSG00000222675	Chromatin interaction
ENSG00000163659	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11928575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9840556	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs9860743	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs9867835	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349885	chr3:156685409-156878910	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
2	nsv829766	chr3:156811536-157020551	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv963492	chr3:156822431-156829339	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156810600-156832000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:156813200-156838000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:156817800-156825600	Weak transcription	Colonic Mucosa	Colon
4	chr3:156817800-156828600	Weak transcription	Pancreas	Pancrea
5	chr3:156818600-156828800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:156819200-156827600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr3:156819600-156846400	Weak transcription	Fetal Kidney	kidney
8	chr3:156821000-156826000	Enhancers	Fetal Heart	heart
9	chr3:156821600-156828600	Weak transcription	Brain Angular Gyrus	brain
10	chr3:156821600-156828600	Weak transcription	Brain Anterior Caudate	brain
11	chr3:156821800-156829400	Enhancers	Colon Smooth Muscle	Colon
12	chr3:156822000-156828400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr3:156822200-156827200	Weak transcription	Fetal Intestine Large	intestine
14	chr3:156822200-156827400	Weak transcription	Fetal Muscle Leg	muscle
15	chr3:156822200-156828600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:156822200-156832800	Weak transcription	Fetal Intestine Small	intestine
17	chr3:156822600-156828400	Weak transcription	NHLF	lung
18	chr3:156823000-156830200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:156823000-156831800	Weak transcription	NHEK	skin
20	chr3:156823200-156829400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:156823400-156827400	Weak transcription	Spleen	Spleen
22	chr3:156823400-156828600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:156823400-156828600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr3:156823600-156826400	Weak transcription	Right Atrium	heart
25	chr3:156823600-156832800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:156824000-156825800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:156824000-156829400	Weak transcription	Fetal Thymus	thymus
28	chr3:156824200-156826200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:156824200-156827200	Weak transcription	Right Ventricle	heart
30	chr3:156824200-156827200	Enhancers	K562	blood
31	chr3:156824200-156827600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr3:156824200-156830200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:156824600-156826200	Enhancers	Stomach Mucosa	stomach
34	chr3:156824600-156826600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:156824800-156825800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:156824800-156825800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:156824800-156828200	Enhancers	Rectal Smooth Muscle	rectum
38	chr3:156824800-156829600	Enhancers	Fetal Stomach	stomach
39	chr3:156825000-156826800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr3:156825200-156825800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr3:156825200-156825800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:156825200-156825800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr3:156825200-156826400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr3:156825200-156826800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr3:156825200-156826800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:156825200-156826800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr3:156825200-156827000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:156825400-156825600	Enhancers	Left Ventricle	heart
49	chr3:156825400-156825800	Enhancers	NHDF-Ad	bronchial
50	chr3:156825400-156826000	Enhancers	HUES64 Cell Line	embryonic stem cell

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