Variant report

Variant	rs34851538
Chromosome Location	chr2:10782323-10782324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10586095..10590642-chr2:10781719..10786359,4	K562	blood:
2	chr2:10782023..10784803-chr2:10786718..10789268,5	K562	blood:
3	chr2:10781555..10784930-chr2:10784952..10786989,3	MCF-7	breast:
4	chr2:10576963..10578657-chr2:10781507..10783403,2	K562	blood:
5	chr2:10781573..10784280-chr2:10828767..10831016,2	K562	blood:
6	chr2:10781906..10784304-chr2:10787215..10789268,3	K562	blood:
7	chr2:10588543..10590116-chr2:10781995..10784305,2	K562	blood:

Variant related genes	Relation type
ENSG00000243819	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000115761	Chromatin interaction
ENSG00000206633	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10207845	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1023587	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1023588	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10490187	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11673879	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11681219	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12476022	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12621903	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13019722	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13035291	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1990614	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015525	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2110779	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2287063	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34140737	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34562923	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34565728	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34965800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35364825	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35454548	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35688901	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36065209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3732111	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3821196	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4668692	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4669597	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4669600	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4669601	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56403646	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56902481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59199925	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62127163	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62127196	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6432106	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6432108	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6432127	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6432129	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6716907	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6733161	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6752034	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6752145	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7579314	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7594513	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7594816	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9678985	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[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	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
6	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr2:10725600-10793400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:10725800-10787000	Weak transcription	Fetal Heart	heart
3	chr2:10729400-10798400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:10742600-10791000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:10742800-10782400	Weak transcription	Esophagus	oesophagus
6	chr2:10753600-10792800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:10754800-10796000	Weak transcription	Small Intestine	intestine
8	chr2:10756200-10795800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:10756200-10828400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:10761000-10783000	Weak transcription	Brain Angular Gyrus	brain
11	chr2:10761200-10782400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:10761200-10782800	Weak transcription	Brain Anterior Caudate	brain
13	chr2:10761800-10793600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:10762000-10793600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:10765600-10787200	Weak transcription	Fetal Brain Male	brain
16	chr2:10771800-10793400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:10772200-10793400	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:10772200-10808400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:10772400-10785000	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:10772400-10793600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:10772800-10783200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:10773000-10784400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:10774600-10789800	Weak transcription	Fetal Kidney	kidney
24	chr2:10775000-10787400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:10775000-10793000	Weak transcription	Psoas Muscle	Psoas
26	chr2:10775000-10793800	Weak transcription	Stomach Mucosa	stomach
27	chr2:10775000-10794200	Weak transcription	HUVEC	blood vessel
28	chr2:10775200-10782600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:10775400-10784600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:10776000-10782800	Weak transcription	NHDF-Ad	bronchial
31	chr2:10776200-10793600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:10776200-10803000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:10776600-10782800	Weak transcription	Ovary	ovary
34	chr2:10777200-10783000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:10777800-10782800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:10777800-10783000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:10777800-10789800	Weak transcription	Colonic Mucosa	Colon
38	chr2:10778000-10782800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:10778000-10790400	Weak transcription	Brain Germinal Matrix	brain
40	chr2:10778400-10782400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr2:10778400-10782400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:10778400-10782400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:10778400-10782400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:10778400-10782400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:10778400-10782600	Weak transcription	Fetal Thymus	thymus
46	chr2:10778400-10793000	Weak transcription	Brain Substantia Nigra	brain
47	chr2:10778600-10782800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:10778600-10784000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:10778600-10786200	Weak transcription	HSMMtube	muscle
50	chr2:10779200-10784600	Strong transcription	Thymus	Thymus

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