Variant report

Variant	rs17149894
Chromosome Location	chr7:12254939-12254940
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12254720..12256765-chr7:12287281..12288945,2	K562	blood:
2	chr7:12249600..12252160-chr7:12253416..12257066,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106460	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1020004	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10235395	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10236369	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1060700	0.82[CEU][hapmap]
rs11974384	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs11983898	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12666249	0.92[ASW][hapmap];0.87[CEU][hapmap];0.93[GIH][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs12699335	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12699336	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs14978	1.00[CEU][hapmap];0.91[GIH][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs1548885	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2043538	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2043540	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2160267	0.85[ASN][1000 genomes]
rs2302632	0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4424141	0.87[ASN][1000 genomes]
rs5011431	0.80[CEU][hapmap]
rs6460894	0.91[CEU][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6966602	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6967026	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6969722	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs929637	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12252000-12255400	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr7:12252000-12255400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:12252000-12256000	Weak transcription	Lung	lung
4	chr7:12252000-12256200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:12252000-12256200	Weak transcription	Ovary	ovary
6	chr7:12252000-12256200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:12252000-12256400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:12252000-12261200	Weak transcription	Aorta	Aorta
9	chr7:12252000-12261200	Weak transcription	Esophagus	oesophagus
10	chr7:12252000-12261200	Weak transcription	Stomach Mucosa	stomach
11	chr7:12252000-12263600	Weak transcription	Thymus	Thymus
12	chr7:12252000-12266200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:12252000-12271000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:12252000-12271600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:12252000-12277600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:12252000-12278200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:12252000-12280000	Weak transcription	Colonic Mucosa	Colon
18	chr7:12252000-12280000	Weak transcription	Right Ventricle	heart
19	chr7:12252000-12285400	Weak transcription	Spleen	Spleen
20	chr7:12252200-12258400	Weak transcription	HSMM	muscle
21	chr7:12252200-12259600	Weak transcription	HMEC	breast
22	chr7:12252200-12262200	Weak transcription	GM12878-XiMat	blood
23	chr7:12252200-12263600	Weak transcription	NH-A	brain
24	chr7:12252200-12263800	Weak transcription	Osteobl	bone
25	chr7:12252200-12279200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:12252200-12279400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:12252400-12255000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:12252400-12255000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:12252400-12255000	Weak transcription	Fetal Intestine Large	intestine
30	chr7:12252400-12255000	Weak transcription	Fetal Stomach	stomach
31	chr7:12252400-12255200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:12252400-12255200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr7:12252400-12255600	Weak transcription	Fetal Muscle Leg	muscle
34	chr7:12252400-12256000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:12252400-12256000	Weak transcription	Psoas Muscle	Psoas
36	chr7:12252400-12256400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:12252400-12256800	Weak transcription	Fetal Brain Female	brain
38	chr7:12252400-12258400	Weak transcription	Brain Anterior Caudate	brain
39	chr7:12252400-12258400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:12252400-12258400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:12252400-12259000	Weak transcription	Brain Germinal Matrix	brain
42	chr7:12252400-12259200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr7:12252400-12261200	Weak transcription	Pancreas	Pancrea
44	chr7:12252400-12262200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr7:12252400-12263200	Weak transcription	Left Ventricle	heart
46	chr7:12252400-12263400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:12252400-12265800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:12252400-12266000	Weak transcription	Small Intestine	intestine
49	chr7:12252400-12269400	Weak transcription	HUVEC	blood vessel
50	chr7:12252400-12271200	Weak transcription	K562	blood

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