Variant report

Variant	rs10229187
Chromosome Location	chr7:127371753-127371754
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127371412..127373444-chr7:127383896..127385666,2	K562	blood:
2	chr7:127359816..127362199-chr7:127371171..127372768,2	K562	blood:
3	chr7:127367439..127369250-chr7:127371404..127374296,2	MCF-7	breast:
4	chr7:127363157..127364758-chr7:127370490..127372919,2	K562	blood:
5	chr7:127371414..127375020-chr7:127377917..127380418,4	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1019578	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10228031	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1025075	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1440973	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1468702	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17133046	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1833146	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1966517	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2582716	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs325438	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs325439	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs325443	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs325448	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs325449	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs325450	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs327509	1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs327514	1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs327515	1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs327517	1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs3757772	1.00[JPT][hapmap]
rs4728078	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4731379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4731382	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4731383	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4731384	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs537972	0.88[AMR][1000 genomes]
rs6467142	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6467146	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6467147	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6467149	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6467150	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6467151	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6950211	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6979918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs698407	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs698409	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs712706	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes]
rs712708	1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs712709	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs712710	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs712711	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs712713	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs712714	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs712717	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs712720	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7809182	1.00[JPT][hapmap]
rs806126	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs806161	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs806163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs806164	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs806165	1.00[AMR][1000 genomes]
rs806167	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs806168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs806170	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs806171	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs806173	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes]
rs806182	0.81[AMR][1000 genomes]
rs809333	0.85[AFR][1000 genomes];0.88[AMR][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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127324800-127372200	Weak transcription	Fetal Heart	heart
2	chr7:127326600-127379800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr7:127331600-127375600	Strong transcription	Fetal Thymus	thymus
4	chr7:127334400-127376600	Weak transcription	Fetal Brain Male	brain
5	chr7:127347800-127383000	Strong transcription	NHEK	skin
6	chr7:127351400-127375600	Strong transcription	Liver	Liver
7	chr7:127351400-127383800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr7:127351600-127382200	Strong transcription	K562	blood
9	chr7:127352200-127372400	Strong transcription	HepG2	liver
10	chr7:127352600-127375600	Strong transcription	Primary T cells from cord blood	blood
11	chr7:127354200-127374000	Weak transcription	Fetal Brain Female	brain
12	chr7:127354200-127376600	Weak transcription	Psoas Muscle	Psoas
13	chr7:127355200-127380000	Strong transcription	GM12878-XiMat	blood
14	chr7:127356600-127375600	Strong transcription	Primary B cells from cord blood	blood
15	chr7:127357200-127375200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr7:127357200-127382600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:127357400-127375000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr7:127357400-127375600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:127357400-127380800	Strong transcription	Fetal Intestine Large	intestine
20	chr7:127357600-127375200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:127357600-127375400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:127357600-127387000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:127357800-127378200	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr7:127358000-127373000	Strong transcription	NH-A	brain
25	chr7:127358200-127374800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:127359800-127375400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr7:127360000-127377800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr7:127360000-127379200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:127360400-127374800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:127360600-127372800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:127360600-127382000	Strong transcription	Hela-S3	cervix
32	chr7:127360800-127377600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:127361200-127375400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:127361200-127391400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr7:127362600-127400000	Weak transcription	Small Intestine	intestine
36	chr7:127363400-127391000	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:127363400-127391400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr7:127363800-127372000	Weak transcription	HUVEC	blood vessel
39	chr7:127363800-127372800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:127364400-127372600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:127364800-127376800	Strong transcription	Lung	lung
42	chr7:127365000-127376000	Weak transcription	A549	lung
43	chr7:127366000-127391000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr7:127366200-127391200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:127366600-127373600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:127366600-127375200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:127366600-127380000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:127366800-127375400	Strong transcription	Osteobl	bone
49	chr7:127367400-127377400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:127367600-127374200	Strong transcription	HSMM	muscle

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