Variant report

Variant	rs62327332
Chromosome Location	chr4:104050198-104050199
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	chr4:104043146..104047491-chr4:104049639..104052308,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1159713	0.83[AMR][1000 genomes]
rs62327337	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757946	chr4:103780705-104057321	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759270	chr4:103780705-104057321	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv3429917	chr4:103915319-104207455	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv830021	chr4:103934454-104100588	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1015023	chr4:104039145-104565217	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104021000-104056000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:104021000-104058200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:104021000-104063800	Weak transcription	Fetal Stomach	stomach
4	chr4:104021000-104068400	Weak transcription	Fetal Brain Male	brain
5	chr4:104021000-104076400	Weak transcription	Fetal Brain Female	brain
6	chr4:104021000-104089600	Weak transcription	Fetal Heart	heart
7	chr4:104021200-104076600	Weak transcription	Fetal Intestine Small	intestine
8	chr4:104021200-104100200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:104021400-104074600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:104029000-104056200	Weak transcription	Fetal Lung	lung
11	chr4:104029000-104089000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:104029800-104089000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:104030200-104063600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:104030200-104089600	Weak transcription	Hela-S3	cervix
15	chr4:104030400-104053000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr4:104030800-104055800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:104031200-104069000	Weak transcription	Primary B cells from cord blood	blood
18	chr4:104031400-104053000	Weak transcription	Fetal Intestine Large	intestine
19	chr4:104031400-104057600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr4:104032200-104053000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:104032200-104053000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:104032600-104050200	Weak transcription	Fetal Muscle Leg	muscle
23	chr4:104033200-104054200	Weak transcription	NH-A	brain
24	chr4:104034800-104050800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:104035200-104057800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr4:104038200-104095800	Strong transcription	Fetal Thymus	thymus
27	chr4:104039200-104058400	Weak transcription	Left Ventricle	heart
28	chr4:104039200-104077400	Strong transcription	Dnd41	blood
29	chr4:104041600-104053000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr4:104044600-104070600	Weak transcription	HepG2	liver
31	chr4:104044800-104053200	Weak transcription	K562	blood
32	chr4:104045000-104050200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:104045000-104050600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:104045000-104052000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:104046200-104051000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr4:104046200-104058400	Strong transcription	HSMM	muscle
37	chr4:104046400-104053200	Weak transcription	NHEK	skin
38	chr4:104046400-104056200	Weak transcription	HMEC	breast
39	chr4:104047200-104058000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr4:104047200-104058200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:104047600-104058400	Weak transcription	Thymus	Thymus
42	chr4:104047800-104052000	Weak transcription	HUVEC	blood vessel
43	chr4:104048600-104071400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:104049000-104051400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:104049000-104073800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr4:104049000-104075200	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:104049200-104050200	ZNF genes & repeats	NHDF-Ad	bronchial
48	chr4:104049200-104050400	ZNF genes & repeats	GM12878-XiMat	blood
49	chr4:104049200-104050600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:104049200-104050600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links