Variant report

Variant	rs848546
Chromosome Location	chr2:36704767-36704768
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:36704444-36705261	A549	lung:	n/a	n/a
2	POLR2A	chr2:36704368-36705133	ProgFib	skin:	n/a	n/a
3	TCF12	chr2:36704502-36706151	SK-N-SH	brain:	n/a	chr2:36704780-36704787
4	SPI1	chr2:36704283-36704904	HL-60	blood:	n/a	chr2:36704319-36704332
5	POLR2A	chr2:36704034-36704884	Hela-S3	cervix:	n/a	n/a
6	MYC	chr2:36704505-36705350	NB4	blood:	n/a	n/a
7	POLR2A	chr2:36703577-36707125	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr2:36704519-36705431	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr2:36703930-36705277	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr2:36703523-36708264	HUVEC	blood vessel:	n/a	n/a
11	GATA2	chr2:36704686-36705679	HUVEC	blood vessel:	n/a	n/a
12	MAX	chr2:36704553-36705328	NB4	blood:	n/a	n/a
13	POLR2A	chr2:36703880-36707069	SK-N-SH	brain:	n/a	n/a
14	MAX	chr2:36704518-36706375	A549	lung:	n/a	chr2:36706158-36706173
15	POLR2A	chr2:36704546-36704800	A549	lung:	n/a	n/a
16	POLR2A	chr2:36704457-36704827	A549	lung:	n/a	n/a
17	POLR2A	chr2:36704678-36705280	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36703233..36705219-chr2:36822844..36824378,2	K562	blood:

Variant related genes	Relation type
CRIM1	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs711251	0.87[ASN][1000 genomes]
rs848534	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs848544	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848545	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs848548	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs848549	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs848555	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs848558	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs861051	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv581468	chr2:36687111-36715689	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36687200-36712000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:36688600-36725600	Weak transcription	Small Intestine	intestine
3	chr2:36689200-36706400	Weak transcription	Thymus	Thymus
4	chr2:36698600-36705200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:36699000-36704800	ZNF genes & repeats	NHEK	skin
6	chr2:36699600-36705000	ZNF genes & repeats	HMEC	breast
7	chr2:36701000-36705400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:36702000-36709000	Strong transcription	Hela-S3	cervix
9	chr2:36702400-36712000	Genic enhancers	HUVEC	blood vessel
10	chr2:36702600-36705200	ZNF genes & repeats	Primary B cells from cord blood	blood
11	chr2:36702800-36705000	ZNF genes & repeats	NHLF	lung
12	chr2:36703200-36707400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:36703200-36709400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:36703200-36710600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:36703200-36712600	Genic enhancers	Osteobl	bone
16	chr2:36703200-36717200	Weak transcription	Brain Substantia Nigra	brain
17	chr2:36703400-36706600	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr2:36703400-36710200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:36703400-36712000	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:36703400-36712800	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:36703600-36705000	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:36703600-36705200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr2:36703600-36712400	Genic enhancers	NHDF-Ad	bronchial
24	chr2:36703800-36705600	Strong transcription	Fetal Lung	lung
25	chr2:36703800-36706000	Weak transcription	K562	blood
26	chr2:36703800-36706200	Weak transcription	Primary T cells from cord blood	blood
27	chr2:36703800-36708600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:36703800-36708800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:36703800-36709200	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:36703800-36711600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:36703800-36713400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:36704000-36704800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:36704000-36704800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:36704000-36704800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:36704000-36704800	Strong transcription	Brain Angular Gyrus	brain
36	chr2:36704000-36704800	Strong transcription	Brain Hippocampus Middle	brain
37	chr2:36704000-36704800	ZNF genes & repeats	Pancreas	Pancrea
38	chr2:36704000-36705000	Strong transcription	Fetal Brain Female	brain
39	chr2:36704000-36705000	Strong transcription	Fetal Stomach	stomach
40	chr2:36704000-36705000	ZNF genes & repeats	Left Ventricle	heart
41	chr2:36704000-36705000	Strong transcription	Psoas Muscle	Psoas
42	chr2:36704000-36705200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:36704000-36705200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:36704000-36705200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:36704000-36705200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:36704000-36705200	ZNF genes & repeats	Lung	lung
47	chr2:36704000-36705200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
48	chr2:36704000-36705400	Strong transcription	Right Ventricle	heart
49	chr2:36704000-36706200	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr2:36704000-36706200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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