Variant report

Variant	rs7214991
Chromosome Location	chr17:28572360-28572361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:28529332..28531724-chr17:28572216..28574184,2	K562	blood:
2	chr17:28558250..28560250-chr17:28569367..28572544,3	K562	blood:
3	chr17:28547733..28550114-chr17:28570543..28573246,2	K562	blood:

Variant related genes	Relation type
ENSG00000108576	Chromatin interaction
ENSG00000264125	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1050565	0.84[CEU][hapmap];0.80[CHD][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap]
rs11867581	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12939390	0.84[CEU][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap]
rs12949747	0.84[CEU][hapmap];0.80[CHD][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap]
rs13341611	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1487971	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17767256	0.85[CHD][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap]
rs2321705	0.80[ASN][1000 genomes]
rs3103305	0.81[ASN][1000 genomes]
rs3110452	0.94[JPT][hapmap]
rs3110453	0.81[ASN][1000 genomes]
rs33980254	0.84[CEU][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap]
rs3764449	0.84[CEU][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap]
rs3794806	0.84[CEU][hapmap];0.94[JPT][hapmap]
rs3816828	0.94[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6505165	0.84[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6505169	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.95[ASN][1000 genomes]
rs6505171	0.91[ASN][1000 genomes]
rs6505173	0.84[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7208052	0.84[CEU][hapmap];0.94[JPT][hapmap]
rs7210085	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7214014	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7214248	0.87[CEU][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap]
rs7215330	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7223821	0.83[CEU][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap]
rs7342921	0.83[CEU][hapmap];0.94[JPT][hapmap]
rs7342929	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8072345	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8073378	0.88[ASN][1000 genomes]
rs8080300	0.91[ASN][1000 genomes]
rs9896548	0.97[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7214991	POLDIP2	cis	cerebellum	SCAN
rs7214991	GOSR1	cis	parietal	SCAN
rs7214991	ZFYVE21	trans	lymphoblastoid	seeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:28563200-28575000	Weak transcription	Aorta	Aorta
2	chr17:28564800-28573600	Weak transcription	A549	lung
3	chr17:28565600-28575000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:28566000-28575400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:28566000-28575400	Weak transcription	Gastric	stomach
6	chr17:28566000-28575600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:28566200-28574000	Weak transcription	GM12878-XiMat	blood
8	chr17:28566200-28574200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:28566200-28574800	Weak transcription	Fetal Intestine Small	intestine
10	chr17:28566400-28574400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:28566600-28618000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:28566800-28574400	Weak transcription	HepG2	liver
13	chr17:28567600-28598000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr17:28568200-28573600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr17:28568200-28574800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr17:28568200-28574800	Weak transcription	Fetal Intestine Large	intestine
17	chr17:28568400-28573600	Weak transcription	Fetal Muscle Leg	muscle
18	chr17:28568400-28574000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr17:28568600-28574000	Weak transcription	Brain Hippocampus Middle	brain
20	chr17:28568600-28574600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr17:28568800-28573600	Weak transcription	HUVEC	blood vessel
22	chr17:28568800-28574800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr17:28568800-28575000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr17:28569000-28574000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:28569000-28574000	Weak transcription	Fetal Kidney	kidney
26	chr17:28569200-28574800	Weak transcription	Fetal Brain Female	brain
27	chr17:28569200-28575400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr17:28569400-28573600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr17:28569400-28574000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr17:28569400-28574200	Weak transcription	Fetal Thymus	thymus
31	chr17:28569400-28575000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr17:28569400-28575000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr17:28569600-28573400	Weak transcription	Primary T cells from cord blood	blood
34	chr17:28570000-28575200	Weak transcription	Fetal Lung	lung
35	chr17:28570200-28573800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr17:28570200-28574000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr17:28570200-28574800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr17:28570200-28574800	Weak transcription	Brain Germinal Matrix	brain
39	chr17:28570200-28575000	Weak transcription	Left Ventricle	heart
40	chr17:28570200-28575200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr17:28570400-28573800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr17:28570400-28574000	Weak transcription	Brain Anterior Caudate	brain
43	chr17:28570400-28574200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr17:28570400-28576000	Weak transcription	Psoas Muscle	Psoas
45	chr17:28570400-28611600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr17:28570600-28573600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr17:28570600-28574600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr17:28570600-28574800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr17:28570800-28573000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr17:28570800-28573600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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