Variant report

Variant	rs2149336
Chromosome Location	chr6:37042478-37042479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37029336..37032184-chr6:37039647..37042976,3	MCF-7	breast:
2	chr6:37040469..37042667-chr6:37045350..37047958,2	MCF-7	breast:
3	chr6:37040241..37044221-chr6:37049851..37052927,3	K562	blood:
4	chr6:37023226..37025868-chr6:37041331..37043544,2	K562	blood:
5	chr6:37036808..37040698-chr6:37041272..37044112,3	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10223714	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12199978	1.00[CHB][hapmap]
rs1224491	0.81[ASN][1000 genomes]
rs1228575	0.83[ASN][1000 genomes]
rs1724094	0.81[ASN][1000 genomes]
rs1753301	0.83[ASN][1000 genomes]
rs2025998	0.83[ASN][1000 genomes]
rs2094575	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4317401	0.83[ASN][1000 genomes]
rs4711482	0.83[ASN][1000 genomes]
rs4711483	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4714035	0.80[EUR][1000 genomes]
rs6457974	0.83[ASN][1000 genomes]
rs6457976	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6457978	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6457979	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6457980	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6924660	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6939869	0.83[ASN][1000 genomes]
rs7748291	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7750403	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7750614	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7750717	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7751821	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7770544	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7774073	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs831484	0.83[ASN][1000 genomes]
rs831487	0.83[ASN][1000 genomes]
rs831489	0.83[ASN][1000 genomes]
rs831491	0.83[ASN][1000 genomes]
rs831497	0.80[ASN][1000 genomes]
rs831499	0.80[ASN][1000 genomes]
rs831500	0.80[ASN][1000 genomes]
rs913499	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs913500	0.83[ASN][1000 genomes]
rs9296208	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9366927	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9380637	0.83[ASN][1000 genomes]
rs9380638	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9394401	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9394402	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9394403	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9462258	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9470469	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 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	chr6:37037200-37042800	Enhancers	HepG2	liver
2	chr6:37037200-37045200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:37037600-37045400	Weak transcription	Spleen	Spleen
4	chr6:37039400-37043000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:37039600-37045200	Weak transcription	Fetal Intestine Large	intestine
6	chr6:37039600-37045400	Enhancers	Liver	Liver
7	chr6:37039800-37045000	Weak transcription	Fetal Intestine Small	intestine
8	chr6:37039800-37045200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:37039800-37045400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:37040000-37043400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:37040000-37045200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:37040000-37051200	Weak transcription	A549	lung
13	chr6:37040200-37044800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:37040200-37045000	Weak transcription	HMEC	breast
15	chr6:37040200-37045200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:37040200-37045200	Weak transcription	Esophagus	oesophagus
17	chr6:37040600-37045400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:37041000-37045400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:37041000-37047000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:37041200-37042800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:37041200-37045000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr6:37041200-37045000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:37041200-37045000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:37041200-37045200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:37041200-37045800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:37041400-37042600	Enhancers	HSMMtube	muscle
27	chr6:37041400-37042800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:37041400-37043000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr6:37041600-37042800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr6:37041600-37043000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr6:37042000-37042800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:37042000-37045200	Weak transcription	Osteobl	bone
33	chr6:37042000-37045400	Weak transcription	Lung	lung
34	chr6:37042200-37042600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:37042200-37042600	Enhancers	NHEK	skin
36	chr6:37042200-37042800	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr6:37042200-37044000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr6:37042200-37044800	Weak transcription	Right Atrium	heart
39	chr6:37042200-37044800	Weak transcription	NHDF-Ad	bronchial
40	chr6:37042400-37042800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:37042400-37042800	Weak transcription	K562	blood
42	chr6:37042400-37044800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:37042400-37044800	Weak transcription	Adipose Nuclei	Adipose
44	chr6:37042400-37044800	Weak transcription	Fetal Muscle Trunk	muscle

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