Variant report

Variant	rs4585981
Chromosome Location	chr1:9860050-9860051
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9858725..9860856-chr1:9868974..9871058,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10779731	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs10864436	1.00[CEU][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs10864437	0.82[EUR][1000 genomes]
rs10864438	0.84[EUR][1000 genomes]
rs11121486	0.85[CEU][hapmap];0.86[LWK][hapmap];0.86[MKK][hapmap]
rs11121492	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11121493	0.88[ASW][hapmap];1.00[CEU][hapmap];0.84[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs11674	0.84[EUR][1000 genomes]
rs11806520	0.87[EUR][1000 genomes]
rs12034239	0.91[EUR][1000 genomes]
rs12037599	0.85[CEU][hapmap]
rs12042293	0.85[CEU][hapmap];0.91[LWK][hapmap];0.85[MKK][hapmap]
rs12047054	1.00[CEU][hapmap];0.92[TSI][hapmap]
rs12078414	1.00[CEU][hapmap];0.96[GIH][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs12087051	0.91[EUR][1000 genomes]
rs12088273	0.82[EUR][1000 genomes]
rs1228434	0.98[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12568720	0.85[CEU][hapmap]
rs12569008	0.85[CEU][hapmap]
rs1615629	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs1631962	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1660741	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1660742	0.88[ASW][hapmap];1.00[CEU][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs17034335	1.00[CEU][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs17034340	0.86[EUR][1000 genomes]
rs1767271	0.81[ASN][1000 genomes]
rs1767277	1.00[CEU][hapmap];0.96[GIH][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs2788605	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41280776	0.89[ASN][1000 genomes]
rs56109009	0.84[EUR][1000 genomes]
rs57480158	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57560942	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59729812	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6699320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72855716	0.84[EUR][1000 genomes]
rs72855733	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72855735	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72855745	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72855747	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7526958	0.85[CEU][hapmap]
rs7550246	0.84[EUR][1000 genomes]
rs7550295	0.85[CEU][hapmap]
rs767762	1.00[CEU][hapmap];0.96[GIH][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs935071	0.91[EUR][1000 genomes]
rs946277	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs946278	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs946279	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer 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	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv1822763	chr1:9847032-9864493	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9843000-9864400	Weak transcription	Stomach Mucosa	stomach
2	chr1:9848600-9864600	Weak transcription	Small Intestine	intestine
3	chr1:9854000-9864600	Weak transcription	Fetal Intestine Small	intestine
4	chr1:9854000-9871600	Weak transcription	Brain Germinal Matrix	brain
5	chr1:9854200-9865200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:9854400-9865200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:9854600-9862800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:9855000-9864800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:9856800-9860200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:9857000-9863400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr1:9857200-9860200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr1:9857200-9860200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr1:9857200-9865000	Weak transcription	K562	blood
14	chr1:9857400-9863000	Weak transcription	Psoas Muscle	Psoas
15	chr1:9857400-9864800	Weak transcription	Lung	lung
16	chr1:9857400-9865000	Weak transcription	HepG2	liver
17	chr1:9857400-9865200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:9857600-9867000	Weak transcription	Thymus	Thymus
19	chr1:9857600-9868600	Weak transcription	Spleen	Spleen
20	chr1:9857800-9862200	Weak transcription	Fetal Heart	heart
21	chr1:9857800-9867600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:9858600-9865000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:9858600-9865200	Weak transcription	Fetal Kidney	kidney
24	chr1:9858800-9861800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:9858800-9864600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:9858800-9864600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:9858800-9865200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:9858800-9867000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:9859000-9860200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:9859000-9862000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:9859000-9862800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:9859000-9867800	Weak transcription	Fetal Stomach	stomach
33	chr1:9859000-9870800	Weak transcription	Fetal Brain Female	brain
34	chr1:9859000-9871400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:9859000-9875000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr1:9859000-9881800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr1:9859000-9882400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:9859200-9862200	Weak transcription	Primary T cells from cord blood	blood
39	chr1:9859200-9863000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:9859200-9863200	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:9859200-9864400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:9859200-9864400	Weak transcription	Pancreas	Pancrea
43	chr1:9859200-9864400	Weak transcription	HMEC	breast
44	chr1:9859200-9864600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:9859200-9864600	Weak transcription	Brain Anterior Caudate	brain
46	chr1:9859200-9864800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:9859200-9865000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:9859200-9867200	Weak transcription	Gastric	stomach
49	chr1:9859200-9867600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:9859200-9867600	Weak transcription	Brain Angular Gyrus	brain

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