Variant report

Variant	rs2034677
Chromosome Location	chr4:99187874-99187875
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99184237..99185798-chr4:99187404..99189518,2	K562	blood:
2	chr4:99181433..99184032-chr4:99184791..99188052,5	K562	blood:
3	chr4:99187002..99188810-chr4:99194814..99197047,2	K562	blood:

Variant related genes	Relation type
ENSG00000138698	Chromatin interaction
ENSG00000214559	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10516428	1.00[ASW][hapmap];0.95[CEU][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[LWK][hapmap];0.89[MEX][hapmap];0.98[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12508978	0.82[JPT][hapmap]
rs13116916	0.88[JPT][hapmap]
rs13130131	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28630395	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28753895	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59218679	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6827097	0.85[EUR][1000 genomes]
rs7671104	0.82[JPT][hapmap]
rs7678647	0.85[ASW][hapmap];0.89[CEU][hapmap];0.87[GIH][hapmap];0.82[JPT][hapmap];0.89[LWK][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs9884594	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1001570	chr4:98976239-99239838	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1004616	chr4:99085875-99308901	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2763801	chr4:99094892-99413853	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv879652	chr4:99125659-99303633	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv528127	chr4:99146436-99229839	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv879653	chr4:99152631-99260423	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99183400-99194200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:99183600-99198200	Weak transcription	Ovary	ovary
3	chr4:99183600-99205400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:99184000-99193200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:99184000-99196000	Weak transcription	Esophagus	oesophagus
6	chr4:99184000-99197000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr4:99184000-99205800	Weak transcription	Gastric	stomach
8	chr4:99184000-99210400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:99184000-99239600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:99184200-99188600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:99184200-99192800	Weak transcription	HSMM	muscle
12	chr4:99184200-99195200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:99184200-99196800	Weak transcription	Fetal Thymus	thymus
14	chr4:99184200-99199000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:99184200-99205800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:99184200-99205800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:99184200-99210000	Weak transcription	HSMMtube	muscle
18	chr4:99184200-99242200	Weak transcription	A549	lung
19	chr4:99184400-99188400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:99184400-99190400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:99184400-99190600	Weak transcription	Fetal Lung	lung
22	chr4:99184600-99205800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:99184600-99211800	Weak transcription	NHLF	lung
24	chr4:99184800-99188000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:99184800-99188800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:99184800-99189000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:99184800-99189200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr4:99184800-99193200	Weak transcription	Thymus	Thymus
29	chr4:99184800-99195800	Weak transcription	Brain Hippocampus Middle	brain
30	chr4:99184800-99197000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr4:99184800-99197200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:99185000-99188200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:99185000-99188800	Weak transcription	Primary B cells from cord blood	blood
34	chr4:99185000-99193200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:99185000-99197800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr4:99185000-99199600	Weak transcription	NHDF-Ad	bronchial
37	chr4:99185000-99204400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:99185000-99206600	Weak transcription	NH-A	brain
39	chr4:99185200-99193000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:99185200-99193600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr4:99185200-99196400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr4:99185200-99197200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:99185200-99205600	Weak transcription	HMEC	breast
44	chr4:99185400-99239400	Weak transcription	NHEK	skin
45	chr4:99186200-99205800	Weak transcription	HUVEC	blood vessel
46	chr4:99186400-99193000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:99186600-99188400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:99186600-99190200	Weak transcription	Brain Angular Gyrus	brain
49	chr4:99186600-99210000	Weak transcription	K562	blood
50	chr4:99186800-99189200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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