Variant report

Variant	rs6457978
Chromosome Location	chr6:37040303-37040304
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37038083..37040728-chr6:37067671..37070819,3	MCF-7	breast:
2	chr6:37029336..37032184-chr6:37039647..37042976,3	MCF-7	breast:
3	chr6:37040241..37044221-chr6:37049851..37052927,3	K562	blood:
4	chr6:37025397..37029627-chr6:37037607..37042418,9	MCF-7	breast:
5	chr6:37037124..37041765-chr6:37137125..37140593,5	MCF-7	breast:
6	chr6:37039829..37042150-chr6:37044091..37047669,4	K562	blood:
7	chr6:37040055..37042190-chr6:37226411..37229127,2	K562	blood:
8	chr6:37038270..37040946-chr6:37102202..37104279,3	MCF-7	breast:
9	chr6:37036808..37040698-chr6:37041272..37044112,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137193	Chromatin interaction

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

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

rs_ID	r²[population]
rs10223714	0.91[ASN][1000 genomes]
rs1224491	0.85[ASN][1000 genomes]
rs1228575	0.86[ASN][1000 genomes]
rs1724094	0.85[ASN][1000 genomes]
rs1753301	0.86[ASN][1000 genomes]
rs2025998	0.86[ASN][1000 genomes]
rs2094575	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2149336	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4317401	0.86[ASN][1000 genomes]
rs4711482	0.86[ASN][1000 genomes]
rs4711483	0.86[ASN][1000 genomes]
rs6457974	0.86[ASN][1000 genomes]
rs6457976	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6457979	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6457980	0.91[ASN][1000 genomes]
rs6924660	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6939869	0.86[ASN][1000 genomes]
rs7748291	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7750403	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7750614	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7750717	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7751821	0.91[ASN][1000 genomes]
rs7770544	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7774073	0.90[ASN][1000 genomes]
rs831484	0.86[ASN][1000 genomes]
rs831487	0.86[ASN][1000 genomes]
rs831489	0.86[ASN][1000 genomes]
rs831491	0.86[ASN][1000 genomes]
rs831497	0.83[ASN][1000 genomes]
rs831499	0.83[ASN][1000 genomes]
rs831500	0.83[ASN][1000 genomes]
rs831502	0.80[ASN][1000 genomes]
rs913499	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs913500	0.86[ASN][1000 genomes]
rs9296207	0.81[ASN][1000 genomes]
rs9296208	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9366927	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9380637	0.86[ASN][1000 genomes]
rs9380638	0.81[AMR][1000 genomes]
rs9394401	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9394402	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9394403	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9462258	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9470469	0.88[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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37036600-37041800	Weak transcription	Right Atrium	heart
2	chr6:37036800-37041400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr6:37037000-37041600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:37037200-37042800	Enhancers	HepG2	liver
5	chr6:37037200-37045200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:37037600-37045400	Weak transcription	Spleen	Spleen
7	chr6:37038200-37041200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:37039000-37040800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr6:37039000-37041200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:37039000-37041200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr6:37039200-37040800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:37039200-37041000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr6:37039200-37041000	Enhancers	Primary B cells from peripheral blood	blood
14	chr6:37039200-37041200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr6:37039200-37041200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr6:37039200-37041200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:37039200-37042400	Enhancers	K562	blood
18	chr6:37039400-37040400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:37039400-37040600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:37039400-37040600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:37039400-37040800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:37039400-37040800	Enhancers	Primary B cells from cord blood	blood
23	chr6:37039400-37040800	Enhancers	Primary hematopoietic stem cells	blood
24	chr6:37039400-37040800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr6:37039400-37040800	Enhancers	Fetal Thymus	thymus
26	chr6:37039400-37040800	Enhancers	NHEK	skin
27	chr6:37039400-37041000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr6:37039400-37041000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:37039400-37041000	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr6:37039400-37041200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr6:37039400-37041200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr6:37039400-37041200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr6:37039400-37043000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:37039600-37040600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:37039600-37040600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:37039600-37040800	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr6:37039600-37041200	Enhancers	Dnd41	blood
38	chr6:37039600-37045200	Weak transcription	Fetal Intestine Large	intestine
39	chr6:37039600-37045400	Enhancers	Liver	Liver
40	chr6:37039800-37040600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr6:37039800-37040800	Weak transcription	Fetal Muscle Leg	muscle
42	chr6:37039800-37041000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:37039800-37041000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr6:37039800-37041400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:37039800-37041600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr6:37039800-37045000	Weak transcription	Fetal Intestine Small	intestine
47	chr6:37039800-37045200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr6:37039800-37045400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:37040000-37040400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr6:37040000-37040400	Weak transcription	Adipose Nuclei	Adipose

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