Variant report

Variant	rs2094575
Chromosome Location	chr6:37028695-37028696
allele	A/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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37025219..37028736-chr6:37042673..37044927,4	MCF-7	breast:
2	chr6:37013215..37030579-chr6:37135643..37146812,60	K562	blood:
3	chr6:37013215..37030665-chr6:37134901..37148307,66	K562	blood:
4	chr6:37026757..37029218-chr6:37077573..37079658,2	K562	blood:
5	chr6:37021819..37031002-chr6:37065955..37074085,20	MCF-7	breast:
6	chr6:37014868..37029815-chr6:37135131..37143827,44	MCF-7	breast:
7	chr6:37016328..37032410-chr6:37132402..37145966,91	MCF-7	breast:
8	chr6:37027099..37030994-chr6:37049896..37053173,4	MCF-7	breast:
9	chr6:37026387..37030329-chr6:37076623..37079658,4	K562	blood:
10	chr6:37027012..37030167-chr6:37045267..37048455,4	K562	blood:
11	chr6:37027478..37029052-chr6:37051959..37053874,2	MCF-7	breast:
12	chr6:37025397..37029627-chr6:37037607..37042418,9	MCF-7	breast:
13	chr6:37022535..37025870-chr6:37027364..37029356,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137193	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10223714	0.88[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]
rs2149336	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4317401	0.86[ASN][1000 genomes]
rs4711482	0.86[ASN][1000 genomes]
rs4711483	0.83[ASN][1000 genomes]
rs6457974	0.86[ASN][1000 genomes]
rs6457976	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6457978	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6457979	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6457980	0.88[ASN][1000 genomes]
rs6924660	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6939869	0.86[ASN][1000 genomes]
rs7748291	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7750403	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7750614	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7750717	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751821	0.88[ASN][1000 genomes]
rs7770544	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7774073	0.86[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	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs913500	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9296207	0.81[ASN][1000 genomes]
rs9296208	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366927	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9380637	0.86[ASN][1000 genomes]
rs9394401	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9394402	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9394403	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9462258	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9470469	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv518386	chr6:36942746-37037670	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37024600-37029000	Weak transcription	Gastric	stomach
2	chr6:37025400-37029800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr6:37025800-37029200	Weak transcription	Pancreas	Pancrea
4	chr6:37026600-37029800	Enhancers	Fetal Intestine Small	intestine
5	chr6:37026800-37030000	Enhancers	Fetal Muscle Leg	muscle
6	chr6:37027000-37029200	Enhancers	Liver	Liver
7	chr6:37027000-37029200	Enhancers	Fetal Stomach	stomach
8	chr6:37027200-37029800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:37027200-37030400	Enhancers	Adipose Nuclei	Adipose
10	chr6:37027400-37029800	Enhancers	Duodenum Mucosa	Duodenum
11	chr6:37027600-37029000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr6:37027600-37029800	Enhancers	Fetal Thymus	thymus
13	chr6:37027600-37032400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:37027800-37028800	Weak transcription	Left Ventricle	heart
15	chr6:37027800-37029000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:37027800-37029200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:37027800-37029200	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:37027800-37029800	Enhancers	Fetal Intestine Large	intestine
19	chr6:37028000-37028800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:37028000-37029000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:37028000-37029000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr6:37028000-37029000	Weak transcription	Brain Anterior Caudate	brain
23	chr6:37028000-37029200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr6:37028000-37029200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:37028000-37029200	Weak transcription	Colonic Mucosa	Colon
26	chr6:37028000-37029200	Weak transcription	Psoas Muscle	Psoas
27	chr6:37028000-37029400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:37028000-37029400	Weak transcription	Esophagus	oesophagus
29	chr6:37028000-37029400	Enhancers	Fetal Muscle Trunk	muscle
30	chr6:37028000-37029400	Weak transcription	Lung	lung
31	chr6:37028000-37029600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:37028000-37029800	Enhancers	Brain Substantia Nigra	brain
33	chr6:37028000-37030000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr6:37028200-37029000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:37028200-37029000	Weak transcription	Fetal Kidney	kidney
36	chr6:37028200-37029200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:37028200-37029200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:37028200-37029200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:37028200-37029200	Weak transcription	Right Atrium	heart
40	chr6:37028200-37029200	Weak transcription	Stomach Mucosa	stomach
41	chr6:37028200-37029200	Weak transcription	HSMM	muscle
42	chr6:37028200-37029400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:37028200-37029400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:37028200-37029400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:37028200-37029400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:37028200-37029600	Enhancers	Hela-S3	cervix
47	chr6:37028200-37029600	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr6:37028200-37030000	Enhancers	HepG2	liver
49	chr6:37028200-37030400	Enhancers	A549	lung
50	chr6:37028200-37030800	Enhancers	K562	blood

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