Variant report

Variant	rs12330007
Chromosome Location	chr22:30429664-30429665
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:99426397..99429195-chr22:30427299..30429997,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10222281	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10483156	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10483158	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11090591	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11090592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11090597	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11090600	0.84[AMR][1000 genomes]
rs11090601	0.84[AMR][1000 genomes]
rs11704206	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11704885	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11705048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11705207	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11705418	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12165769	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12166087	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12166755	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12166998	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12169403	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12169823	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12330076	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12627856	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12627944	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17644868	0.87[ASN][1000 genomes]
rs17644886	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17647135	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17713646	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28635872	0.84[AMR][1000 genomes]
rs34647160	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3747148	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs3788418	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3788425	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs737905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs737906	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs737907	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs739615	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916782	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9614123	1.00[JPT][hapmap]
rs9620928	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9620929	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9620935	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9620936	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9620944	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9620948	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9620955	0.84[AMR][1000 genomes]
rs9625883	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9625886	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9625887	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9625889	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9625894	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9625895	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9625896	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9625899	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9625910	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625914	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9625922	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625924	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9625930	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30390200-30434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30391400-30433000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr22:30409000-30432800	Strong transcription	Fetal Stomach	stomach
4	chr22:30412000-30431200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr22:30419600-30434400	Weak transcription	Small Intestine	intestine
6	chr22:30422400-30434200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:30422400-30434200	Weak transcription	HUVEC	blood vessel
8	chr22:30422800-30429800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr22:30423000-30432600	Weak transcription	NH-A	brain
10	chr22:30423400-30430800	Strong transcription	Fetal Intestine Small	intestine
11	chr22:30423400-30432400	Weak transcription	Stomach Mucosa	stomach
12	chr22:30423400-30434400	Weak transcription	A549	lung
13	chr22:30423600-30447600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr22:30424200-30429800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr22:30424200-30434000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr22:30424400-30429800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr22:30424400-30431400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr22:30424600-30429800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr22:30424600-30432600	Weak transcription	HMEC	breast
20	chr22:30424600-30435600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr22:30424800-30432400	Weak transcription	Colonic Mucosa	Colon
22	chr22:30424800-30443000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr22:30425000-30430600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr22:30425000-30434200	Weak transcription	Gastric	stomach
25	chr22:30425200-30429800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr22:30425200-30430400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr22:30425200-30431600	Weak transcription	Esophagus	oesophagus
28	chr22:30425200-30432400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr22:30425200-30432400	Weak transcription	HSMMtube	muscle
30	chr22:30425200-30434000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr22:30425200-30434200	Weak transcription	Pancreas	Pancrea
32	chr22:30425200-30434200	Weak transcription	NHLF	lung
33	chr22:30425200-30435800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr22:30425200-30438800	Weak transcription	Fetal Intestine Large	intestine
35	chr22:30425200-30440000	Weak transcription	Fetal Lung	lung
36	chr22:30425200-30440200	Weak transcription	Brain Germinal Matrix	brain
37	chr22:30425400-30432200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr22:30425400-30432400	Weak transcription	NHEK	skin
39	chr22:30425400-30432400	Weak transcription	Osteobl	bone
40	chr22:30425600-30439400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr22:30425800-30431200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr22:30425800-30432400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr22:30425800-30433000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr22:30425800-30433800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr22:30425800-30434000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr22:30425800-30434800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr22:30425800-30435400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr22:30425800-30439800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr22:30425800-30442000	Weak transcription	Fetal Brain Female	brain
50	chr22:30426000-30432400	Weak transcription	HSMM	muscle

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