Variant report

Variant	rs12530484
Chromosome Location	chr7:22209078-22209079
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10242092	0.93[AFR][1000 genomes]
rs10250341	1.00[CHB][hapmap]
rs10250355	1.00[CHB][hapmap]
rs10255486	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs10268307	0.93[AFR][1000 genomes]
rs10268516	0.93[AFR][1000 genomes]
rs10271658	0.93[AFR][1000 genomes]
rs10282106	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10950895	1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs11763898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11766435	0.88[CEU][hapmap]
rs11766861	0.88[CEU][hapmap]
rs12533150	1.00[CHB][hapmap]
rs12700363	0.88[CEU][hapmap]
rs12700364	0.88[CEU][hapmap]
rs13223956	0.81[AFR][1000 genomes]
rs1345251	0.91[MKK][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1419765	0.88[CEU][hapmap]
rs17146362	1.00[ASW][hapmap]
rs17773555	0.85[CEU][hapmap]
rs17774699	1.00[ASW][hapmap]
rs1981598	0.87[AFR][1000 genomes]
rs2079478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813383	0.86[TSI][hapmap]
rs41273945	0.93[AFR][1000 genomes]
rs41273948	0.93[AFR][1000 genomes]
rs41273951	0.93[AFR][1000 genomes]
rs41273957	0.93[AFR][1000 genomes]
rs41273963	0.93[AFR][1000 genomes]
rs4291165	1.00[CHB][hapmap]
rs4496855	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs4590334	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs4640962	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs4722106	0.93[AFR][1000 genomes]
rs4722108	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5014150	1.00[CHB][hapmap]
rs6461640	1.00[CHB][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs6461641	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs6944433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948973	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs6949461	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs6960229	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965394	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971344	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs6980127	1.00[CHB][hapmap]
rs73683318	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796738	1.00[CHB][hapmap]
rs7803094	0.88[CEU][hapmap]
rs7809342	1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs7810806	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9886139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606405	chr7:22202485-22235825	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22159800-22214000	Weak transcription	Small Intestine	intestine
2	chr7:22184600-22240600	Weak transcription	Colonic Mucosa	Colon
3	chr7:22190000-22232800	Weak transcription	Aorta	Aorta
4	chr7:22193800-22232000	Weak transcription	Adipose Nuclei	Adipose
5	chr7:22194200-22223200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:22194400-22218200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:22194400-22219400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:22194400-22227200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:22194400-22232400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:22194600-22221200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:22196200-22213800	Weak transcription	GM12878-XiMat	blood
12	chr7:22196400-22213800	Weak transcription	Primary B cells from cord blood	blood
13	chr7:22196600-22213600	Weak transcription	HUVEC	blood vessel
14	chr7:22196600-22214000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:22196800-22216800	Weak transcription	Spleen	Spleen
16	chr7:22196800-22218000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:22197600-22213400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:22197600-22213400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:22197600-22213400	Weak transcription	Thymus	Thymus
20	chr7:22198000-22212800	Weak transcription	NHEK	skin
21	chr7:22198000-22223600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:22198200-22212400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:22198400-22213400	Weak transcription	Esophagus	oesophagus
24	chr7:22199800-22219600	Weak transcription	Left Ventricle	heart
25	chr7:22201000-22209200	Weak transcription	Fetal Intestine Small	intestine
26	chr7:22201600-22209600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:22202600-22212600	Weak transcription	Brain Anterior Caudate	brain
28	chr7:22204000-22209200	Weak transcription	Pancreas	Pancrea
29	chr7:22204000-22214000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr7:22205800-22213400	Weak transcription	Lung	lung
31	chr7:22206600-22209800	Weak transcription	Brain Angular Gyrus	brain
32	chr7:22206800-22209200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr7:22206800-22212800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:22206800-22213200	Weak transcription	Fetal Thymus	thymus
35	chr7:22206800-22215400	Weak transcription	Fetal Intestine Large	intestine
36	chr7:22206800-22215600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:22206800-22218200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr7:22207000-22232000	Weak transcription	Fetal Stomach	stomach
39	chr7:22207400-22209200	Enhancers	Brain Substantia Nigra	brain
40	chr7:22207800-22210000	Enhancers	Brain Hippocampus Middle	brain
41	chr7:22208000-22209800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:22208000-22212800	Weak transcription	K562	blood
43	chr7:22208200-22216600	Weak transcription	Liver	Liver
44	chr7:22209000-22209400	Enhancers	HepG2	liver
45	chr7:22209000-22212200	Weak transcription	Dnd41	blood
46	chr7:22209000-22213400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:22209000-22220000	Weak transcription	Rectal Mucosa Donor 29	rectum

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