Variant report

Variant	rs6715461
Chromosome Location	chr2:10795440-10795441
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	chr2:10586954..10588782-chr2:10794192..10796406,3	K562	blood:

Variant related genes	Relation type
ENSG00000206633	Chromatin interaction
ENSG00000115758	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10178247	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13005359	0.87[ASN][1000 genomes]
rs1586622	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1586623	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17364547	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17364568	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2110775	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2357654	0.82[ASN][1000 genomes]
rs2357656	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4233884	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4669605	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4669606	0.82[ASN][1000 genomes]
rs55674834	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58445061	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6725354	0.83[ASN][1000 genomes]
rs72777324	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72777328	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72777332	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72777335	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7572631	0.82[ASN][1000 genomes]
rs759398	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9798203	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10729400-10798400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:10754800-10796000	Weak transcription	Small Intestine	intestine
3	chr2:10756200-10795800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:10756200-10828400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:10772200-10808400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:10776200-10803000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:10779400-10801400	Strong transcription	Primary T cells from cord blood	blood
8	chr2:10779600-10803600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:10779600-10808400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:10780600-10800000	Weak transcription	Right Atrium	heart
11	chr2:10781600-10799800	Strong transcription	Liver	Liver
12	chr2:10781600-10800400	Strong transcription	Duodenum Mucosa	Duodenum
13	chr2:10781800-10803000	Strong transcription	Adipose Nuclei	Adipose
14	chr2:10782000-10803200	Strong transcription	Dnd41	blood
15	chr2:10782200-10808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:10784800-10803200	Strong transcription	A549	lung
17	chr2:10785800-10800200	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr2:10786000-10800400	Strong transcription	HepG2	liver
19	chr2:10786000-10800600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:10786200-10800400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr2:10786200-10802800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:10786200-10803600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:10786400-10809200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:10786600-10808400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr2:10786800-10798400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:10786800-10803600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:10787000-10797400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:10787000-10803200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:10787000-10808800	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:10787200-10802600	Strong transcription	Fetal Muscle Trunk	muscle
31	chr2:10787400-10797200	Strong transcription	Fetal Intestine Large	intestine
32	chr2:10787400-10797600	Strong transcription	Fetal Intestine Small	intestine
33	chr2:10787400-10808400	Strong transcription	Placenta	Placenta
34	chr2:10787400-10808400	Strong transcription	Fetal Stomach	stomach
35	chr2:10787600-10800600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:10788000-10803400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr2:10788000-10827400	Weak transcription	Fetal Brain Male	brain
38	chr2:10788400-10800200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:10788400-10828000	Weak transcription	Fetal Heart	heart
40	chr2:10789000-10820600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr2:10789200-10799800	Strong transcription	Left Ventricle	heart
42	chr2:10789200-10803200	Strong transcription	Fetal Muscle Leg	muscle
43	chr2:10789400-10807800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:10789400-10808400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:10790000-10808400	Strong transcription	Fetal Thymus	thymus
46	chr2:10790400-10800200	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr2:10790600-10797400	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:10791600-10808200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:10792000-10797800	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:10792400-10799800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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