Variant report

Variant	rs10130136
Chromosome Location	chr14:56271113-56271114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56263621..56267640-chr14:56269558..56273646,4	K562	blood:
2	chr14:56269404..56272163-chr14:56272459..56274714,3	MCF-7	breast:
3	chr14:56266308..56267973-chr14:56270310..56271812,2	MCF-7	breast:
4	chr14:56264314..56267640-chr14:56270614..56273646,3	K562	blood:
5	chr14:56259914..56261848-chr14:56268841..56271820,2	K562	blood:

Variant related genes	Relation type
ENSG00000258791	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10131235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10133911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140629	0.89[ASN][1000 genomes]
rs10142391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142961	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10144024	0.89[ASN][1000 genomes]
rs10145894	0.89[ASN][1000 genomes]
rs10147997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28498087	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28520487	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28540836	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153419	1.00[EUR][1000 genomes]
rs7154894	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56257600-56271600	Weak transcription	Gastric	stomach
2	chr14:56268600-56271800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:56269200-56272600	Enhancers	Small Intestine	intestine
4	chr14:56269200-56275200	Enhancers	Fetal Intestine Small	intestine
5	chr14:56269600-56271200	Enhancers	HUVEC	blood vessel
6	chr14:56269600-56275200	Enhancers	Pancreas	Pancrea
7	chr14:56270000-56271200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr14:56270000-56271200	Flanking Active TSS	Stomach Mucosa	stomach
9	chr14:56270000-56273800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:56270200-56271200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr14:56270200-56273400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:56270200-56273400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:56270400-56271200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr14:56270400-56273600	Weak transcription	K562	blood
15	chr14:56270600-56271200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr14:56270600-56271200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr14:56270600-56272000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:56270600-56275200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr14:56270800-56271200	Weak transcription	Fetal Intestine Large	intestine
20	chr14:56270800-56271200	Enhancers	NH-A	brain
21	chr14:56270800-56271800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr14:56270800-56271800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr14:56270800-56272000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:56270800-56272000	Weak transcription	HSMMtube	muscle
25	chr14:56270800-56273200	Weak transcription	Dnd41	blood
26	chr14:56270800-56273400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:56270800-56273400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:56270800-56273400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:56270800-56273600	Weak transcription	Esophagus	oesophagus
30	chr14:56270800-56273800	Weak transcription	HepG2	liver
31	chr14:56271000-56271400	Enhancers	Hela-S3	cervix
32	chr14:56271000-56272000	Enhancers	Right Ventricle	heart
33	chr14:56271000-56273400	Weak transcription	NHEK	skin

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