Variant report

Variant	rs10194972
Chromosome Location	chr2:37313079-37313080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr2:37313021-37313275	K562	blood:	n/a	n/a
2	FOS	chr2:37313019-37313259	MCF10A-Er-Src	breast:	n/a	n/a
3	RUNX3	chr2:37312974-37313390	GM12878	blood:	n/a	n/a
4	FOS	chr2:37312922-37313328	MCF10A-Er-Src	breast:	n/a	n/a
5	JUND	chr2:37312737-37313337	K562	blood:	n/a	chr2:37313173-37313184
6	POLR2A	chr2:37313069-37313101	MCF10A-Er-Src	breast:	n/a	n/a
7	MAFK	chr2:37312965-37313161	K562	blood:	n/a	n/a
8	JUN	chr2:37313041-37313237	HepG2	liver:	n/a	n/a
9	YY1	chr2:37312894-37313117	K562	blood:	n/a	n/a
10	CCNT2	chr2:37312831-37313194	K562	blood:	n/a	n/a
11	POLR2A	chr2:37312912-37313215	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:37306796..37309782-chr2:37312097..37314349,2	K562	blood:
2	chr2:37311730..37314606-chr2:37345143..37347572,2	K562	blood:
3	chr2:37192443..37195662-chr2:37309226..37313144,4	K562	blood:
4	chr2:37311131..37313325-chr2:37314182..37316886,3	MCF-7	breast:
5	chr2:37310057..37313374-chr2:37313742..37317078,6	K562	blood:

No data

Variant related genes	Relation type
GPATCH11	TF binding region
HEATR5B	TF binding region
ENSG00000152133	Chromatin interaction
ENSG00000115808	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10176303	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10177315	1.00[ASN][1000 genomes]
rs10188586	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10191403	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10202693	1.00[YRI][hapmap]
rs11892108	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11892180	1.00[ASN][1000 genomes]
rs11894496	1.00[ASN][1000 genomes]
rs12470942	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs12474977	1.00[YRI][hapmap]
rs13388882	1.00[ASN][1000 genomes]
rs13398178	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs13398187	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13399537	1.00[YRI][hapmap]
rs13424255	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs13425123	1.00[YRI][hapmap]
rs13425846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426400	1.00[YRI][hapmap]
rs2307472	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2307474	1.00[ASN][1000 genomes]
rs2307483	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs2372443	1.00[ASN][1000 genomes]
rs2373114	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs2373188	1.00[ASN][1000 genomes]
rs2541001	0.95[EUR][1000 genomes]
rs3845782	1.00[CEU][hapmap]
rs3856498	1.00[ASN][1000 genomes]
rs4233920	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648150	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648153	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648156	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648158	1.00[ASN][1000 genomes]
rs4648160	1.00[ASN][1000 genomes]
rs4648166	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648169	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648170	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648171	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648175	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648190	1.00[ASN][1000 genomes]
rs4648191	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648196	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648199	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648202	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs4648212	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648216	1.00[ASN][1000 genomes]
rs4648218	1.00[ASN][1000 genomes]
rs4648219	1.00[ASN][1000 genomes]
rs4648234	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648237	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs55679447	1.00[ASN][1000 genomes]
rs55939105	1.00[ASN][1000 genomes]
rs62621388	1.00[ASN][1000 genomes]
rs6544054	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6544055	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6718647	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6720519	1.00[ASN][1000 genomes]
rs6726403	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6732075	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6734153	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6740307	1.00[ASN][1000 genomes]
rs7568925	1.00[ASN][1000 genomes]
rs7590377	1.00[ASN][1000 genomes]
rs7596489	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs759668	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs759669	1.00[ASN][1000 genomes]
rs9631047	1.00[YRI][hapmap];0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37308800-37313200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:37310600-37313200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:37312000-37313200	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr2:37312000-37313200	Flanking Active TSS	NHLF	lung
5	chr2:37312000-37313400	Flanking Active TSS	Dnd41	blood
6	chr2:37312000-37316800	Weak transcription	Spleen	Spleen
7	chr2:37312000-37320000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:37312200-37313600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:37312200-37314800	Weak transcription	Gastric	stomach
10	chr2:37312200-37316200	Weak transcription	Esophagus	oesophagus
11	chr2:37312200-37320000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:37312200-37320000	Weak transcription	Lung	lung
13	chr2:37312200-37332800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:37312200-37346000	Weak transcription	Pancreas	Pancrea
15	chr2:37312200-37383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:37312400-37313200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:37312400-37313200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr2:37312400-37313200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:37312400-37313200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr2:37312400-37313200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:37312400-37313200	Enhancers	Brain Angular Gyrus	brain
22	chr2:37312400-37313200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:37312400-37313200	Enhancers	Fetal Intestine Small	intestine
24	chr2:37312400-37313400	Enhancers	Primary B cells from peripheral blood	blood
25	chr2:37312400-37313400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr2:37312400-37313400	Enhancers	HSMM	muscle
27	chr2:37312400-37313600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:37312400-37313800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr2:37312400-37314000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:37312400-37314800	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:37312400-37315000	Weak transcription	Fetal Intestine Large	intestine
32	chr2:37312400-37315400	Weak transcription	Placenta	Placenta
33	chr2:37312400-37315600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:37312400-37315600	Weak transcription	Left Ventricle	heart
35	chr2:37312400-37315800	Weak transcription	Psoas Muscle	Psoas
36	chr2:37312400-37316800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:37312400-37316800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:37312400-37316800	Weak transcription	Aorta	Aorta
39	chr2:37312400-37316800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:37312400-37317200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:37312400-37319400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:37312400-37320000	Weak transcription	Colonic Mucosa	Colon
43	chr2:37312400-37321200	Weak transcription	Right Ventricle	heart
44	chr2:37312400-37332600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:37312400-37332600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:37312600-37313200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:37312600-37313200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:37312600-37313200	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr2:37312600-37313200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:37312600-37313200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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