Variant report

Variant	rs4277441
Chromosome Location	chr19:40756528-40756529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40753793..40756540-chr19:40760904..40762760,3	K562	blood:

Variant related genes	Relation type
ENSG00000105221	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10405207	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11668242	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11880261	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12609706	0.81[ASN][1000 genomes]
rs12974529	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12981110	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2304189	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3730050	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3730051	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4239504	0.82[ASN][1000 genomes]
rs4239506	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4257318	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4332845	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4337402	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4490099	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4499338	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4558508	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4802071	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4802073	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4803320	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6508936	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7248338	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7249146	0.83[ASN][1000 genomes]
rs7250897	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7255581	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7257972	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7260106	0.81[ASN][1000 genomes]
rs7260517	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs748236	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7508604	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8100018	0.86[ASN][1000 genomes]
rs8102171	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8104727	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8110888	0.81[ASN][1000 genomes]
rs969531	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9749283	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1062755	chr19:40737463-40758235	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1059094	chr19:40745377-40758235	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 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	chr19:40732800-40759000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:40735600-40757600	Weak transcription	Stomach Mucosa	stomach
3	chr19:40738000-40763800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr19:40738800-40758000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:40739200-40758400	Strong transcription	Fetal Intestine Small	intestine
6	chr19:40741600-40761000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr19:40743200-40760800	Weak transcription	HMEC	breast
8	chr19:40745800-40760800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:40746400-40760800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:40746600-40758000	Weak transcription	K562	blood
11	chr19:40747200-40759400	Weak transcription	Hela-S3	cervix
12	chr19:40747200-40760800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:40747400-40757600	Weak transcription	HSMM	muscle
14	chr19:40747400-40759200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr19:40747600-40757400	Weak transcription	Primary B cells from cord blood	blood
16	chr19:40748200-40757600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr19:40748200-40758200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr19:40748400-40758400	Weak transcription	Osteobl	bone
19	chr19:40748400-40761000	Weak transcription	Small Intestine	intestine
20	chr19:40748600-40758000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr19:40748600-40759400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr19:40748800-40758000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr19:40748800-40758000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr19:40748800-40760800	Weak transcription	NH-A	brain
25	chr19:40749000-40759000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:40749400-40759200	Weak transcription	HUVEC	blood vessel
27	chr19:40750000-40763800	Strong transcription	Thymus	Thymus
28	chr19:40750000-40764000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr19:40751000-40761800	Weak transcription	Fetal Kidney	kidney
30	chr19:40751200-40758600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr19:40751200-40761600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr19:40751200-40771200	Weak transcription	Fetal Heart	heart
33	chr19:40751600-40758000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr19:40751600-40758400	Weak transcription	HSMMtube	muscle
35	chr19:40751800-40757800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr19:40751800-40758400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr19:40751800-40763600	Strong transcription	Fetal Stomach	stomach
38	chr19:40752000-40757600	Weak transcription	Ovary	ovary
39	chr19:40752000-40759000	Weak transcription	NHDF-Ad	bronchial
40	chr19:40752600-40756800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
41	chr19:40752600-40757000	Strong transcription	Fetal Intestine Large	intestine
42	chr19:40752600-40763400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr19:40752800-40758400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr19:40752800-40763400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:40753000-40772000	Weak transcription	Fetal Brain Male	brain
46	chr19:40753200-40762800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr19:40753200-40763000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:40753200-40763600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr19:40753200-40763800	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr19:40753200-40764600	Strong transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links