Variant report

Variant	rs7808161
Chromosome Location	chr7:127378219-127378220
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127371414..127375020-chr7:127377917..127380418,4	K562	blood:
2	chr7:127376085..127378242-chr7:127382907..127385887,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10487494	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
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];0.82[ASN][1000 genomes]
rs13227138	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13235596	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13244426	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13247976	0.82[ASN][1000 genomes]
rs17660187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17662800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17663644	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17718364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17730185	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17730294	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17733783	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2272374	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];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34188289	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34209480	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs34211107	0.82[ASN][1000 genomes]
rs34250605	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs34365152	0.82[ASN][1000 genomes]
rs34388330	0.82[ASN][1000 genomes]
rs34599926	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34844752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34874680	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34980225	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35120956	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35246122	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35307919	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35421080	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35521470	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35528098	0.82[ASN][1000 genomes]
rs35585856	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35640048	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35872516	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36043097	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36046498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752619	1.00[JPT][hapmap]
rs3757762	1.00[AFR][1000 genomes];0.82[ASN][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];0.93[ASN][1000 genomes]
rs3808090	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes]
rs3808096	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808115	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];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58341788	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58451280	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468943	0.82[ASN][1000 genomes]
rs62481380	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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];0.82[ASN][1000 genomes]
rs62483172	0.82[ASN][1000 genomes]
rs737242	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs746238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788592	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7811506	0.82[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:120 , 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	chr7:127347800-127383000	Strong transcription	NHEK	skin
3	chr7:127351400-127383800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr7:127351600-127382200	Strong transcription	K562	blood
5	chr7:127355200-127380000	Strong transcription	GM12878-XiMat	blood
6	chr7:127357200-127382600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:127357400-127380800	Strong transcription	Fetal Intestine Large	intestine
8	chr7:127357600-127387000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:127360000-127379200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:127360600-127382000	Strong transcription	Hela-S3	cervix
11	chr7:127361200-127391400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:127362600-127400000	Weak transcription	Small Intestine	intestine
13	chr7:127363400-127391000	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:127363400-127391400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:127366000-127391000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:127366200-127391200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:127366600-127380000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:127368800-127391600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:127369000-127384800	Weak transcription	Stomach Mucosa	stomach
20	chr7:127369200-127379600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:127370000-127391200	Weak transcription	NHDF-Ad	bronchial
22	chr7:127371000-127382200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:127371200-127391600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr7:127371400-127379800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:127371400-127380200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:127371600-127378400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:127371800-127378600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:127371800-127378800	Weak transcription	Right Atrium	heart
29	chr7:127371800-127382200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:127371800-127391200	Weak transcription	Esophagus	oesophagus
31	chr7:127372000-127391000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:127372200-127378800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:127372200-127384800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr7:127372200-127386000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:127372200-127391200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:127372200-127395600	Weak transcription	Thymus	Thymus
37	chr7:127372400-127378800	Strong transcription	Placenta	Placenta
38	chr7:127372400-127381600	Weak transcription	Spleen	Spleen
39	chr7:127372400-127391200	Weak transcription	Brain Anterior Caudate	brain
40	chr7:127372400-127391200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:127372600-127378400	Weak transcription	Aorta	Aorta
42	chr7:127372600-127379000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr7:127372600-127379800	Weak transcription	Gastric	stomach
44	chr7:127372600-127385600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr7:127372600-127391000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:127372600-127391200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr7:127372600-127394600	Weak transcription	Ovary	ovary
48	chr7:127373000-127379000	Weak transcription	Fetal Kidney	kidney
49	chr7:127373200-127391200	Weak transcription	Brain Substantia Nigra	brain
50	chr7:127373200-127410000	Weak transcription	Stomach Smooth Muscle	stomach

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