Variant report

Variant	rs17718364
Chromosome Location	chr7:127375347-127375348
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127365430..127367078-chr7:127372960..127375815,2	K562	blood:
2	chr7:127342487..127344378-chr7:127375148..127377215,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10487494	1.00[JPT][hapmap]
rs10487496	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12536698	1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs13227138	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13235596	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13244426	1.00[JPT][hapmap]
rs17660187	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17662800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17663644	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17730185	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17730294	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2272374	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34188289	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34209480	1.00[AFR][1000 genomes]
rs34250605	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs34599926	0.81[AFR][1000 genomes]
rs34844752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34874680	0.89[AMR][1000 genomes]
rs34980225	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35120956	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35246122	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35307919	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35421080	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35521470	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs35585856	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs35640048	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35872516	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36043097	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36046498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3752619	1.00[JPT][hapmap]
rs3757762	1.00[AFR][1000 genomes]
rs3757785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[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[YRI][hapmap];0.94[AMR][1000 genomes]
rs3808096	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[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];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[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[MEX][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58341788	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58451280	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62481380	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62481384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62481393	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62481453	1.00[AFR][1000 genomes]
rs737242	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs746238	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7788592	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7808161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7811506	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	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
6	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127326600-127379800	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr7:127331600-127375600	Strong transcription	Fetal Thymus	thymus
3	chr7:127334400-127376600	Weak transcription	Fetal Brain Male	brain
4	chr7:127347800-127383000	Strong transcription	NHEK	skin
5	chr7:127351400-127375600	Strong transcription	Liver	Liver
6	chr7:127351400-127383800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr7:127351600-127382200	Strong transcription	K562	blood
8	chr7:127352600-127375600	Strong transcription	Primary T cells from cord blood	blood
9	chr7:127354200-127376600	Weak transcription	Psoas Muscle	Psoas
10	chr7:127355200-127380000	Strong transcription	GM12878-XiMat	blood
11	chr7:127356600-127375600	Strong transcription	Primary B cells from cord blood	blood
12	chr7:127357200-127382600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:127357400-127375600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:127357400-127380800	Strong transcription	Fetal Intestine Large	intestine
15	chr7:127357600-127375400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:127357600-127387000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:127357800-127378200	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr7:127359800-127375400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr7:127360000-127377800	Strong transcription	Duodenum Mucosa	Duodenum
20	chr7:127360000-127379200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:127360600-127382000	Strong transcription	Hela-S3	cervix
22	chr7:127360800-127377600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:127361200-127375400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:127361200-127391400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:127362600-127400000	Weak transcription	Small Intestine	intestine
26	chr7:127363400-127391000	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:127363400-127391400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr7:127364800-127376800	Strong transcription	Lung	lung
29	chr7:127365000-127376000	Weak transcription	A549	lung
30	chr7:127366000-127391000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:127366200-127391200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:127366600-127380000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:127366800-127375400	Strong transcription	Osteobl	bone
34	chr7:127367400-127377400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:127367800-127375600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:127368800-127391600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:127369000-127384800	Weak transcription	Stomach Mucosa	stomach
38	chr7:127369200-127377400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr7:127369200-127379600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:127369400-127375600	Strong transcription	Dnd41	blood
41	chr7:127369600-127375400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr7:127370000-127375600	Strong transcription	Fetal Intestine Small	intestine
43	chr7:127370000-127391200	Weak transcription	NHDF-Ad	bronchial
44	chr7:127370200-127375400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr7:127370200-127378200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr7:127370400-127375400	Strong transcription	Adipose Nuclei	Adipose
47	chr7:127370400-127378000	Strong transcription	HMEC	breast
48	chr7:127371000-127382200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:127371200-127375600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:127371200-127391600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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