Variant report

Variant	rs17190292
Chromosome Location	chr7:137625967-137625968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137593114..137594861-chr7:137623750..137626523,2	MCF-7	breast:
2	chr7:137624157..137626644-chr7:137626697..137629114,2	K562	blood:
3	chr7:137624266..137626271-chr7:137687037..137689375,2	MCF-7	breast:
4	chr7:137616778..137619340-chr7:137624073..137626250,2	K562	blood:
5	chr7:137624395..137627192-chr7:137647019..137649301,2	K562	blood:
6	chr7:137620168..137621846-chr7:137623700..137626526,2	K562	blood:

Variant related genes	Relation type
ENSG00000182158	Chromatin interaction
ENSG00000122787	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10224250	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10260415	1.00[CEU][hapmap]
rs10267160	0.91[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap]
rs10488443	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs11970829	1.00[CHB][hapmap]
rs12533090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536683	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13228781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13245803	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17169459	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs17183616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17190987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17275136	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34100060	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs34786382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34814437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34878104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34924702	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35503163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35615147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35988674	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36086400	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4732274	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765857	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777412	0.83[AMR][1000 genomes]
rs7812168	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9691292	1.00[CEU][hapmap]

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	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137615600-137635600	Weak transcription	Hela-S3	cervix
2	chr7:137617200-137627400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:137618200-137637200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:137618600-137627600	Weak transcription	A549	lung
5	chr7:137618600-137628000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:137619400-137628000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:137621200-137626000	Enhancers	HepG2	liver
8	chr7:137621200-137638000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:137621400-137651800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr7:137621600-137626800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:137621800-137628600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:137621800-137629000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:137621800-137633800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:137622000-137626200	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:137622000-137627400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:137622000-137627400	Weak transcription	Brain Angular Gyrus	brain
17	chr7:137622000-137627600	Weak transcription	Primary B cells from cord blood	blood
18	chr7:137622000-137627600	Weak transcription	Colonic Mucosa	Colon
19	chr7:137622000-137627600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr7:137622000-137643000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr7:137622200-137626000	Weak transcription	Fetal Stomach	stomach
22	chr7:137622200-137627000	Weak transcription	Brain Anterior Caudate	brain
23	chr7:137622200-137627600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:137622200-137627800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:137622200-137628000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:137622200-137628000	Weak transcription	Fetal Lung	lung
27	chr7:137622200-137628000	Weak transcription	HUVEC	blood vessel
28	chr7:137622200-137636600	Weak transcription	Esophagus	oesophagus
29	chr7:137622200-137638200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:137622200-137643200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr7:137622400-137626000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:137622400-137627200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:137622400-137627400	Weak transcription	Brain Substantia Nigra	brain
34	chr7:137622400-137627800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:137622400-137627800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:137622400-137628600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:137622400-137638400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:137623000-137627800	Weak transcription	GM12878-XiMat	blood
39	chr7:137623000-137628200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:137623400-137627200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr7:137623800-137628200	Enhancers	Fetal Muscle Leg	muscle
42	chr7:137624000-137626400	Enhancers	Right Atrium	heart
43	chr7:137624000-137628800	Enhancers	Ovary	ovary
44	chr7:137624000-137629000	Enhancers	Fetal Heart	heart
45	chr7:137624000-137629200	Enhancers	Placenta	Placenta
46	chr7:137624000-137629400	Enhancers	Fetal Intestine Large	intestine
47	chr7:137624200-137626000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:137624200-137626400	Enhancers	Aorta	Aorta
49	chr7:137624200-137629400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:137624200-137633400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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