Variant report

Variant	rs17730294
Chromosome Location	chr7:127424356-127424357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127415404..127418841-chr7:127421923..127425152,3	K562	blood:
2	chr7:127410218..127412934-chr7:127422329..127425135,2	MCF-7	breast:
3	chr7:127423131..127425908-chr7:127427714..127430922,3	K562	blood:
4	chr7:127423131..127425989-chr7:127426509..127430202,4	K562	blood:
5	chr7:127412000..127413898-chr7:127423427..127425410,2	MCF-7	breast:
6	chr7:127418258..127422061-chr7:127422146..127424884,5	MCF-7	breast:
7	chr7:127418147..127421025-chr7:127422773..127424458,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10487494	0.82[ASN][1000 genomes]
rs10487496	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12536698	1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[ASN][1000 genomes]
rs13227138	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13235596	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13244426	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13247976	0.82[ASN][1000 genomes]
rs17660187	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17662800	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17663644	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17718364	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17730185	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17733783	0.82[ASN][1000 genomes]
rs2272374	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34188289	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34209480	0.82[ASN][1000 genomes]
rs34250605	0.89[AMR][1000 genomes]
rs34365152	0.82[ASN][1000 genomes]
rs34388330	0.82[ASN][1000 genomes]
rs34599926	0.85[ASN][1000 genomes]
rs34844752	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34874680	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34980225	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35120956	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35246122	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35307919	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35421080	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35521470	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35528098	0.82[ASN][1000 genomes]
rs35585856	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35602492	0.82[ASN][1000 genomes]
rs35640048	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35872516	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36043097	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs36046498	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757762	0.82[ASN][1000 genomes]
rs3757785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3779525	0.86[ASN][1000 genomes]
rs3808062	0.86[ASN][1000 genomes]
rs3808090	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes]
rs3808096	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808111	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808115	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58341788	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58451280	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481380	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481384	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481393	1.00[AMR][1000 genomes]
rs62481453	0.82[ASN][1000 genomes]
rs62483172	0.82[ASN][1000 genomes]
rs6948752	0.86[ASN][1000 genomes]
rs737242	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs746238	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788592	0.89[AMR][1000 genomes]
rs7808161	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811506	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127379200-127437400	Weak transcription	Fetal Stomach	stomach
2	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
3	chr7:127395800-127437200	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:127401000-127427000	Weak transcription	HepG2	liver
5	chr7:127401000-127447600	Weak transcription	Fetal Intestine Large	intestine
6	chr7:127401000-127447800	Weak transcription	Fetal Intestine Small	intestine
7	chr7:127403800-127433400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:127407400-127439200	Weak transcription	Primary T cells from cord blood	blood
9	chr7:127407400-127447600	Weak transcription	Dnd41	blood
10	chr7:127407600-127428800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:127408400-127426400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:127409400-127430200	Weak transcription	Liver	Liver
13	chr7:127410200-127425000	Weak transcription	Ovary	ovary
14	chr7:127410200-127432800	Weak transcription	Psoas Muscle	Psoas
15	chr7:127411400-127437200	Weak transcription	Left Ventricle	heart
16	chr7:127414600-127427200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr7:127418000-127427400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:127418200-127426000	Weak transcription	HSMMtube	muscle
19	chr7:127419800-127435200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr7:127422000-127424400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:127422000-127424600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr7:127422400-127424800	Weak transcription	K562	blood
23	chr7:127422400-127425000	Weak transcription	Gastric	stomach
24	chr7:127422400-127432400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:127422400-127445400	Weak transcription	Aorta	Aorta
26	chr7:127422800-127427800	Weak transcription	Brain Angular Gyrus	brain
27	chr7:127422800-127432200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:127423000-127424600	Weak transcription	Fetal Thymus	thymus
29	chr7:127423000-127425000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:127423000-127425000	Weak transcription	Right Atrium	heart
31	chr7:127423000-127426200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:127423000-127427200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:127423000-127427200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:127423000-127427200	Weak transcription	Adipose Nuclei	Adipose
35	chr7:127423000-127427600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:127423000-127427600	Weak transcription	A549	lung
37	chr7:127423000-127429600	Weak transcription	Pancreas	Pancrea
38	chr7:127423000-127432200	Weak transcription	Lung	lung
39	chr7:127423000-127437200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:127423000-127437400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:127423000-127437800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:127423000-127437800	Weak transcription	Fetal Lung	lung
43	chr7:127423000-127449200	Weak transcription	Small Intestine	intestine
44	chr7:127423200-127424600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:127423200-127425200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:127423200-127427400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr7:127423200-127427600	Weak transcription	Brain Anterior Caudate	brain
48	chr7:127423200-127429600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr7:127423200-127432600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:127423200-127437400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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