Variant report

Variant	rs12194615
Chromosome Location	chr6:149307085-149307086
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12197795	0.85[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12202149	0.94[JPT][hapmap]
rs12204964	1.00[CEU][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12207855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207913	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1384310	0.94[JPT][hapmap];0.83[MEX][hapmap];0.80[ASN][1000 genomes]
rs1564601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1564602	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2340749	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs3734376	0.94[JPT][hapmap]
rs3734377	0.94[JPT][hapmap]
rs4358650	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924147	0.81[AMR][1000 genomes]
rs6932862	0.94[JPT][hapmap]
rs6933251	0.94[JPT][hapmap]
rs6936508	0.85[CEU][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9322162	0.85[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9377181	0.94[JPT][hapmap]
rs9377183	0.85[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9377186	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9386241	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9404010	0.89[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9404011	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032690	chr6:149206106-149398712	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv830842	chr6:149272321-149427340	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149276400-149308400	Weak transcription	Lung	lung
2	chr6:149278000-149310600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:149286800-149320600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:149289200-149314600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:149290800-149311800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:149292800-149321200	Weak transcription	Aorta	Aorta
7	chr6:149293800-149309400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:149294000-149308000	Weak transcription	HMEC	breast
9	chr6:149294000-149320400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:149294200-149307200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr6:149294200-149309000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:149294200-149319400	Weak transcription	HSMMtube	muscle
13	chr6:149294400-149308200	Weak transcription	Primary B cells from cord blood	blood
14	chr6:149296000-149311400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:149300000-149319800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:149300800-149317600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:149301200-149309800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:149301600-149307200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:149301600-149309800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:149301800-149308400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:149301800-149309200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:149301800-149309200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:149302000-149308400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr6:149302000-149309200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr6:149302000-149310200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr6:149302000-149311600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:149302800-149309000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr6:149302800-149316200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:149304400-149308800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:149304400-149310000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:149304400-149314000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:149304600-149310000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr6:149304800-149309800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:149304800-149311600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:149305000-149308800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:149305200-149310000	Weak transcription	Colon Smooth Muscle	Colon
37	chr6:149305200-149311800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:149305400-149381400	Weak transcription	Gastric	stomach
39	chr6:149306000-149309000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:149306000-149311600	Weak transcription	Fetal Muscle Leg	muscle
41	chr6:149306200-149319400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:149306400-149310000	Weak transcription	Ovary	ovary
43	chr6:149306400-149316800	Weak transcription	Fetal Heart	heart
44	chr6:149306600-149308600	Weak transcription	Fetal Stomach	stomach

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