Variant report

Variant	rs3804623
Chromosome Location	chr3:98302932-98302933
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:98241309..98243234-chr3:98301701..98304609,2	K562	blood:

Variant related genes	Relation type
ENSG00000080822	Chromatin interaction
ENSG00000248839	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10804679	0.95[CHB][hapmap]
rs13063161	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs34214978	0.81[ASN][1000 genomes]
rs3804622	0.95[CHB][hapmap]
rs4857405	0.95[CHB][hapmap]

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	nsv528056	chr3:98101101-98317836	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv520503	chr3:98102801-98317836	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv834775	chr3:98170059-98367552	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv997484	chr3:98284283-98371420	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1000357	chr3:98284283-98381473	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv536661	chr3:98286588-98315764	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98285000-98303400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:98286800-98304200	Weak transcription	Pancreas	Pancrea
3	chr3:98287200-98310200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr3:98287400-98310400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr3:98288200-98303400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr3:98290400-98307600	Weak transcription	Psoas Muscle	Psoas
7	chr3:98292400-98307400	Weak transcription	Fetal Kidney	kidney
8	chr3:98292400-98307600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:98292400-98310400	Weak transcription	Small Intestine	intestine
10	chr3:98292400-98311000	Weak transcription	Fetal Brain Male	brain
11	chr3:98292600-98303000	Weak transcription	A549	lung
12	chr3:98292600-98310200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr3:98292800-98303600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:98293000-98303400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr3:98293000-98311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:98293200-98310400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:98294400-98310400	Weak transcription	Colonic Mucosa	Colon
18	chr3:98294400-98311000	Weak transcription	Stomach Mucosa	stomach
19	chr3:98294600-98303400	Weak transcription	Fetal Intestine Small	intestine
20	chr3:98294600-98304400	Weak transcription	Right Ventricle	heart
21	chr3:98294600-98308200	Weak transcription	Colon Smooth Muscle	Colon
22	chr3:98294800-98308200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:98294800-98311000	Weak transcription	Esophagus	oesophagus
24	chr3:98295000-98305800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:98295000-98308000	Weak transcription	Brain Germinal Matrix	brain
26	chr3:98295200-98303400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:98295200-98308200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr3:98295400-98303600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr3:98295400-98307200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr3:98295600-98303600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr3:98295600-98309800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr3:98296000-98310200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:98296200-98310400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:98296400-98308600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:98296400-98310000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr3:98296600-98311200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:98296800-98303000	Weak transcription	Fetal Stomach	stomach
38	chr3:98296800-98309600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr3:98296800-98310800	Weak transcription	NHLF	lung
40	chr3:98297000-98303400	Weak transcription	Spleen	Spleen
41	chr3:98297000-98305000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:98297000-98309600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:98297400-98310400	Weak transcription	Hela-S3	cervix
44	chr3:98297800-98303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:98298000-98304200	Weak transcription	HSMMtube	muscle
46	chr3:98298200-98303400	Weak transcription	NHDF-Ad	bronchial
47	chr3:98298200-98310800	Weak transcription	HUVEC	blood vessel
48	chr3:98298600-98307200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr3:98299600-98303400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:98299600-98304200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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