Variant report

Variant	rs71608211
Chromosome Location	chr4:2599723-2599724
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:2589322..2591738-chr4:2597321..2600648,3	K562	blood:
2	chr4:2594865..2596514-chr4:2599032..2600754,2	K562	blood:
3	chr4:2537359..2539977-chr4:2598969..2600669,3	MCF-7	breast:
4	chr4:2598897..2600686-chr4:2624823..2627717,2	MCF-7	breast:
5	chr4:2488797..2491742-chr4:2598095..2600891,2	MCF-7	breast:
6	chr4:2589452..2592941-chr4:2596996..2600648,4	K562	blood:

Variant related genes	Relation type
ENSG00000063978	Chromatin interaction
ENSG00000125386	Chromatin interaction

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

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

rs_ID	r²[population]
rs13125136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13129679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13152126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34574967	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35224370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35546272	1.00[EUR][1000 genomes]
rs35670376	1.00[AMR][1000 genomes]
rs71608203	1.00[AFR][1000 genomes]
rs71608205	1.00[AFR][1000 genomes]
rs71608217	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71608219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv432548	chr4:1725009-2652494	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv948659	chr4:1828867-2815632	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv1003409	chr4:2541224-2724199	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1010709	chr4:2580107-2674624	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv878443	chr4:2598799-2731331	Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2589200-2627200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:2589400-2600400	Weak transcription	Stomach Mucosa	stomach
3	chr4:2590400-2600400	Weak transcription	Small Intestine	intestine
4	chr4:2592800-2601000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:2593400-2600400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:2593600-2600200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:2593600-2609800	Weak transcription	Hela-S3	cervix
8	chr4:2594000-2601400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr4:2594400-2600000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:2595000-2599800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:2595000-2600000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr4:2595000-2600400	Weak transcription	Aorta	Aorta
13	chr4:2595200-2600000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr4:2595200-2600400	Weak transcription	Pancreas	Pancrea
15	chr4:2595800-2600000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr4:2596200-2601000	Genic enhancers	HepG2	liver
17	chr4:2596400-2599800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:2596600-2601200	Enhancers	Fetal Lung	lung
19	chr4:2596800-2600800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr4:2597000-2601800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr4:2597000-2603000	Strong transcription	Dnd41	blood
22	chr4:2597400-2600400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr4:2597600-2600200	Weak transcription	Fetal Brain Male	brain
24	chr4:2597800-2600400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:2597800-2600400	Strong transcription	Thymus	Thymus
26	chr4:2597800-2600600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:2597800-2600800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:2597800-2602800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:2598000-2600600	Strong transcription	Primary T cells from cord blood	blood
30	chr4:2598000-2601200	Genic enhancers	Fetal Muscle Leg	muscle
31	chr4:2598000-2602600	Enhancers	Right Atrium	heart
32	chr4:2598000-2602800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:2598000-2603200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:2598200-2600000	Weak transcription	Brain Hippocampus Middle	brain
35	chr4:2598200-2600200	Weak transcription	NHDF-Ad	bronchial
36	chr4:2598200-2600600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr4:2598200-2600600	Weak transcription	Colonic Mucosa	Colon
38	chr4:2598200-2600600	Strong transcription	Fetal Intestine Large	intestine
39	chr4:2598200-2601000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr4:2598200-2601200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:2598200-2601400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr4:2598200-2604200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:2598400-2600000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr4:2598400-2600000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr4:2598400-2600400	Strong transcription	Fetal Stomach	stomach
46	chr4:2598400-2600600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:2598600-2600000	Weak transcription	HUVEC	blood vessel
48	chr4:2598600-2600400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:2598600-2600600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr4:2598600-2601000	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links