Variant report

Variant	rs2486404
Chromosome Location	chr6:149311607-149311608
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149310432..149312307-chr6:149315624..149317638,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2486390	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2486392	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2486395	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2486396	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2486397	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2486398	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2486400	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2486402	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2486403	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2486414	0.85[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs2486415	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2486416	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs2500525	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2500528	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2500530	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2500533	0.91[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2500535	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2500543	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2500545	0.85[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2500548	0.85[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs6899672	1.00[CEU][hapmap]
rs9390651	0.85[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.82[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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149286800-149320600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:149289200-149314600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:149290800-149311800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:149292800-149321200	Weak transcription	Aorta	Aorta
5	chr6:149294000-149320400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:149294200-149319400	Weak transcription	HSMMtube	muscle
7	chr6:149300000-149319800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:149300800-149317600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:149302800-149316200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:149304400-149314000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:149305200-149311800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:149305400-149381400	Weak transcription	Gastric	stomach
13	chr6:149306200-149319400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:149306400-149316800	Weak transcription	Fetal Heart	heart
15	chr6:149308000-149319600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:149308200-149320600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:149308400-149312000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:149308400-149320400	Weak transcription	Right Ventricle	heart
19	chr6:149309200-149312200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr6:149309400-149314200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:149309400-149314800	Weak transcription	Fetal Stomach	stomach
22	chr6:149309600-149312000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:149309600-149317000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:149310000-149311800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:149310000-149311800	Enhancers	Colon Smooth Muscle	Colon
26	chr6:149310200-149319600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:149310200-149335200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:149310400-149314800	Weak transcription	Ovary	ovary
29	chr6:149311000-149314000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:149311000-149314000	Weak transcription	Dnd41	blood
31	chr6:149311000-149319400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr6:149311000-149321000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr6:149311000-149321200	Weak transcription	Pancreas	Pancrea
34	chr6:149311000-149335200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr6:149311200-149314200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:149311200-149314200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr6:149311200-149316600	Weak transcription	Primary B cells from cord blood	blood
38	chr6:149311400-149311800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr6:149311400-149312200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:149311400-149316600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr6:149311600-149311800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr6:149311600-149311800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:149311600-149312000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:149311600-149312000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:149311600-149312200	Enhancers	Fetal Muscle Leg	muscle
46	chr6:149311600-149314600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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