Variant report

Variant	rs16989337
Chromosome Location	chr22:32025055-32025056
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:32024977-32025735	GM12878	blood:	n/a	n/a
2	POLR2A	chr22:32024622-32025644	IMR90	lung:	n/a	n/a
3	POLR2A	chr22:32024886-32027721	GM12892	blood:	n/a	n/a
4	POLR2A	chr22:32024978-32027408	GM12878	blood:	n/a	n/a
5	POLR2A	chr22:32025030-32025439	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr22:32024777-32025076	K562	blood:	n/a	n/a
7	POLR2A	chr22:32013628-32027741	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr22:32025007-32027403	MCF-7	breast:	n/a	n/a
9	POLR2A	chr22:32021836-32027312	GM12878	blood:	n/a	n/a
10	POLR2A	chr22:32024915-32025729	GM12878	blood:	n/a	n/a
11	POLR2A	chr22:32024647-32025987	A549	lung:	n/a	n/a
12	POLR2A	chr22:32024497-32025781	K562	blood:	n/a	n/a
13	POLR2A	chr22:32019390-32027366	GM12891	blood:	n/a	n/a
14	POLR2A	chr22:32025043-32025061	HepG2	liver:	n/a	n/a
15	STAT5A	chr22:32025026-32027293	GM12878	blood:	n/a	n/a
16	POLR2A	chr22:32024858-32026126	HepG2	liver:	n/a	n/a
17	POLR2A	chr22:32024951-32025781	HL-60	blood:	n/a	n/a
18	POLR2A	chr22:32019734-32028474	PBDE	blood:	n/a	n/a
19	POLR2A	chr22:32024546-32027695	GM12892	blood:	n/a	n/a
20	POLR2A	chr22:32023363-32027633	HepG2	liver:	n/a	n/a
21	POLR2A	chr22:32024882-32025827	GM12892	blood:	n/a	n/a
22	POLR2A	chr22:32025031-32025340	GM12878	blood:	n/a	n/a
23	POLR2A	chr22:32024994-32025843	GM12891	blood:	n/a	n/a
24	POLR2A	chr22:32022799-32026868	GM12891	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:32012966-32043914..22:32347255-32351014	K562	blood:
2	22:31936958-31958600..22:32012966-32043914	GM12878	blood:
3	chr22:32024471..32026480-chr22:32056771..32058290,2	MCF-7	breast:
4	chr22:31884997..31887735-chr22:32023066..32028730,7	MCF-7	breast:
5	22:32012966-32043914..22:32513817-32522138	K562	blood:
6	22:31829733-31836635..22:32012966-32043914	GM12878	blood:
7	22:32012966-32043914..22:32665993-32670527	K562	blood:
8	chr22:31884421..31887375-chr22:32024434..32026202,2	MCF-7	breast:
9	chr22:31975899..31977942-chr22:32024771..32027892,3	MCF-7	breast:
10	chr22:32023093..32026034-chr22:32340368..32341945,2	K562	blood:
11	22:31930706-31935473..22:32012966-32043914	GM12878	blood:
12	22:32012966-32043914..22:32529813-32538538	K562	blood:
13	chr22:31957051..31957599-chr22:32025028..32025686,2	MCF-7	breast:
14	22:32012966-32043914..22:32846948-32860159	K562	blood:
15	chr22:32024493..32026910-chr22:32057985..32060151,2	K562	blood:
16	chr22:31978255..31985248-chr22:32021950..32028161,12	MCF-7	breast:
17	22:32012966-32043914..22:32360288-32405313	K562	blood:

No data

Variant related genes	Relation type
PISD	TF binding region
ENSG00000128254	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000229169	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000224050	Chromatin interaction
ENSG00000184459	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1018488	0.82[ASW][hapmap];0.82[YRI][hapmap]
rs12484821	1.00[JPT][hapmap]
rs16989274	1.00[ASW][hapmap]
rs16989379	1.00[YRI][hapmap]
rs16989427	1.00[YRI][hapmap]
rs16989753	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs16989760	0.82[YRI][hapmap]
rs17761365	0.84[EUR][1000 genomes]
rs3804088	0.82[YRI][hapmap]
rs55931230	0.83[AFR][1000 genomes]
rs5753700	1.00[ASW][hapmap]
rs5998079	1.00[YRI][hapmap]
rs62237818	0.83[AFR][1000 genomes]
rs62237830	0.84[EUR][1000 genomes]
rs62237832	0.83[AFR][1000 genomes]
rs62237833	0.83[AFR][1000 genomes]
rs62237834	0.83[AFR][1000 genomes]
rs62237836	0.83[AFR][1000 genomes]
rs62237838	0.83[AFR][1000 genomes]
rs62237843	0.83[AFR][1000 genomes]
rs62237845	0.83[AFR][1000 genomes]
rs62237849	0.83[AFR][1000 genomes]
rs62239170	0.84[EUR][1000 genomes]
rs7285091	1.00[CEU][hapmap]
rs7286496	0.82[ASW][hapmap];0.82[YRI][hapmap]
rs7288051	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs73160700	0.83[AFR][1000 genomes]
rs8142355	1.00[ASW][hapmap];1.00[YRI][hapmap]

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	nsv829176	chr22:31998223-32029556	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2830290	chr22:32011225-32057964	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16989337	CD247	trans	brain	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32010200-32025600	Genic enhancers	Placenta	Placenta
2	chr22:32013600-32025200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr22:32014000-32025600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr22:32015400-32025200	Weak transcription	Hela-S3	cervix
5	chr22:32016400-32025400	Weak transcription	HSMM	muscle
6	chr22:32016600-32025600	Weak transcription	Small Intestine	intestine
7	chr22:32016800-32025600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr22:32017000-32025400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr22:32017600-32025600	Genic enhancers	Spleen	Spleen
10	chr22:32018000-32025400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:32018000-32025600	Weak transcription	Aorta	Aorta
12	chr22:32018200-32025600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr22:32018200-32025600	Weak transcription	HSMMtube	muscle
14	chr22:32018400-32025200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr22:32019600-32026000	Genic enhancers	Esophagus	oesophagus
16	chr22:32020400-32025800	Enhancers	Fetal Thymus	thymus
17	chr22:32020800-32025600	Genic enhancers	Lung	lung
18	chr22:32020800-32026000	Genic enhancers	Gastric	stomach
19	chr22:32020800-32026000	Enhancers	Stomach Mucosa	stomach
20	chr22:32021200-32025400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr22:32021400-32025200	Enhancers	Liver	Liver
22	chr22:32021400-32025800	Enhancers	Right Atrium	heart
23	chr22:32021800-32025600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr22:32022000-32025600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr22:32022000-32025800	Enhancers	Psoas Muscle	Psoas
26	chr22:32022200-32025200	Enhancers	Right Ventricle	heart
27	chr22:32022200-32025400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr22:32022200-32025800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr22:32022400-32025200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr22:32022400-32025200	Genic enhancers	Fetal Intestine Small	intestine
31	chr22:32022400-32025600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:32022400-32025600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr22:32022400-32025600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr22:32022400-32025800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr22:32022600-32025200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:32022600-32025200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr22:32022600-32025200	Weak transcription	Thymus	Thymus
38	chr22:32022600-32025600	Genic enhancers	Muscle Satellite Cultured Cells	--
39	chr22:32022600-32026000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr22:32022800-32025200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr22:32022800-32025200	Strong transcription	Primary hematopoietic stem cells	blood
42	chr22:32022800-32025400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr22:32022800-32025400	Genic enhancers	Fetal Intestine Large	intestine
44	chr22:32022800-32025600	Weak transcription	A549	lung
45	chr22:32022800-32025600	Weak transcription	NH-A	brain
46	chr22:32022800-32025800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr22:32023000-32025200	Enhancers	Colon Smooth Muscle	Colon
48	chr22:32023000-32025200	Weak transcription	NHDF-Ad	bronchial
49	chr22:32023000-32025400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr22:32023000-32025600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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