Variant report

Variant	rs12333620
Chromosome Location	chr7:22358205-22358206
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:22356795..22360587-chr7:22360878..22363987,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10227259	0.95[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs10233668	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238401	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10240399	0.92[AFR][1000 genomes]
rs10242605	0.95[CEU][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.88[EUR][1000 genomes]
rs10242851	0.95[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs10243405	1.00[YRI][hapmap]
rs10264609	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10268485	0.95[CEU][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10276593	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1522280	0.93[YRI][hapmap]
rs1568571	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1568572	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1636895	0.81[JPT][hapmap]
rs17146676	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146709	0.80[CEU][hapmap]
rs2158877	0.81[JPT][hapmap]
rs2256891	0.81[JPT][hapmap]
rs2528913	0.81[JPT][hapmap]
rs2528916	0.81[JPT][hapmap]
rs2528917	0.81[JPT][hapmap]
rs2528918	0.81[JPT][hapmap]
rs2686528	0.90[CEU][hapmap];0.87[JPT][hapmap]
rs28656461	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4337997	0.80[CEU][hapmap]
rs4602791	0.80[CEU][hapmap]
rs62447069	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62447095	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62447097	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62447098	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62447101	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6461643	0.81[CHB][hapmap];0.82[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6968552	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7779510	0.95[CEU][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.88[EUR][1000 genomes]
rs7796489	0.95[CEU][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes]
rs7798671	0.95[CEU][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.88[EUR][1000 genomes]
rs7799625	1.00[ASW][hapmap];0.95[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7805084	0.81[JPT][hapmap]

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	nsv830923	chr7:22316841-22494973	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22282200-22364400	Weak transcription	Esophagus	oesophagus
2	chr7:22327600-22359600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:22331400-22359600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:22333400-22361800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:22337000-22362600	Weak transcription	Brain Anterior Caudate	brain
6	chr7:22340600-22369800	Weak transcription	Gastric	stomach
7	chr7:22340800-22365000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:22342200-22359600	Weak transcription	Pancreas	Pancrea
9	chr7:22342200-22373200	Weak transcription	Lung	lung
10	chr7:22342800-22359800	Weak transcription	Fetal Intestine Small	intestine
11	chr7:22346600-22359000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:22346600-22359600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:22346600-22359800	Weak transcription	Brain Angular Gyrus	brain
14	chr7:22347200-22359600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:22348000-22359400	Weak transcription	NHEK	skin
16	chr7:22348000-22359600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:22348000-22363800	Weak transcription	GM12878-XiMat	blood
18	chr7:22348200-22359400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:22348200-22359600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:22352800-22364600	Weak transcription	Stomach Mucosa	stomach
21	chr7:22354000-22361600	Weak transcription	Primary B cells from cord blood	blood
22	chr7:22354600-22359200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:22354800-22358800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:22354800-22359000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:22354800-22362200	Weak transcription	Thymus	Thymus
26	chr7:22354800-22366400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:22355000-22358400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:22355000-22359400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:22355000-22359400	Weak transcription	Fetal Intestine Large	intestine
30	chr7:22355000-22359600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:22355000-22362000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr7:22355000-22371800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:22357000-22359600	Weak transcription	HepG2	liver
34	chr7:22357200-22358400	Enhancers	K562	blood
35	chr7:22358000-22358400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr7:22358000-22358400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr7:22358000-22358600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:22358000-22359600	Weak transcription	Dnd41	blood
39	chr7:22358200-22358400	Enhancers	Fetal Muscle Leg	muscle
40	chr7:22358200-22358600	Genic enhancers	Fetal Thymus	thymus

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