Variant report

Variant	rs7750717
Chromosome Location	chr6:37027784-37027785
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 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	chr6:36722398..36723937-chr6:37026660..37028558,2	MCF-7	breast:
4	chr6:37013215..37030665-chr6:37134901..37148307,66	K562	blood:
5	chr6:37025721..37028621-chr6:37128949..37132360,3	MCF-7	breast:
6	chr6:37026757..37029218-chr6:37077573..37079658,2	K562	blood:
7	chr6:37021819..37031002-chr6:37065955..37074085,20	MCF-7	breast:
8	chr6:37014868..37029815-chr6:37135131..37143827,44	MCF-7	breast:
9	chr6:37027081..37028694-chr6:37035227..37037998,3	K562	blood:
10	chr6:37023016..37028102-chr6:37100867..37105079,9	MCF-7	breast:
11	chr6:37016328..37032410-chr6:37132402..37145966,91	MCF-7	breast:
12	chr6:37015361..37021664-chr6:37022049..37027809,14	K562	blood:
13	chr6:37027099..37030994-chr6:37049896..37053173,4	MCF-7	breast:
14	chr6:37026387..37030329-chr6:37076623..37079658,4	K562	blood:
15	chr6:37027276..37027962-chr6:37070724..37071719,3	MCF-7	breast:
16	chr6:37027012..37030167-chr6:37045267..37048455,4	K562	blood:
17	chr6:37027478..37029052-chr6:37051959..37053874,2	MCF-7	breast:
18	chr6:37025397..37029627-chr6:37037607..37042418,9	MCF-7	breast:
19	chr6:37025807..37028615-chr6:37031155..37032779,2	MCF-7	breast:
20	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]
rs2094575	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2149336	0.85[AMR][1000 genomes];0.84[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	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6457978	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6457979	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6457980	0.88[ASN][1000 genomes]
rs6924660	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6939869	0.86[ASN][1000 genomes]
rs7748291	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7750403	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7750614	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751821	0.88[ASN][1000 genomes]
rs7770544	0.95[AMR][1000 genomes];0.89[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	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs913500	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9296207	0.81[ASN][1000 genomes]
rs9296208	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366927	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9380637	0.86[ASN][1000 genomes]
rs9394401	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9394402	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9394403	0.91[ASN][1000 genomes]
rs9462258	0.83[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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37024400-37028400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr6:37024600-37029000	Weak transcription	Gastric	stomach
3	chr6:37025400-37029800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr6:37025800-37029200	Weak transcription	Pancreas	Pancrea
5	chr6:37026200-37027800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:37026600-37028200	Enhancers	Stomach Mucosa	stomach
7	chr6:37026600-37029800	Enhancers	Fetal Intestine Small	intestine
8	chr6:37026800-37030000	Enhancers	Fetal Muscle Leg	muscle
9	chr6:37027000-37028000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:37027000-37028000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:37027000-37028000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr6:37027000-37028200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:37027000-37028200	Enhancers	Fetal Kidney	kidney
14	chr6:37027000-37028200	Enhancers	HUVEC	blood vessel
15	chr6:37027000-37028400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr6:37027000-37028400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:37027000-37028400	Enhancers	Placenta	Placenta
18	chr6:37027000-37029200	Enhancers	Liver	Liver
19	chr6:37027000-37029200	Enhancers	Fetal Stomach	stomach
20	chr6:37027200-37027800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr6:37027200-37027800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr6:37027200-37027800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr6:37027200-37027800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr6:37027200-37027800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:37027200-37027800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr6:37027200-37027800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:37027200-37027800	Enhancers	Brain Angular Gyrus	brain
28	chr6:37027200-37027800	Enhancers	Brain Cingulate Gyrus	brain
29	chr6:37027200-37027800	Enhancers	Brain Hippocampus Middle	brain
30	chr6:37027200-37027800	Enhancers	Fetal Heart	heart
31	chr6:37027200-37027800	Enhancers	Left Ventricle	heart
32	chr6:37027200-37027800	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr6:37027200-37027800	Enhancers	Right Ventricle	heart
34	chr6:37027200-37027800	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr6:37027200-37027800	Flanking Active TSS	HMEC	breast
36	chr6:37027200-37027800	Flanking Active TSS	HSMM	muscle
37	chr6:37027200-37027800	Flanking Active TSS	HSMMtube	muscle
38	chr6:37027200-37027800	Flanking Active TSS	NH-A	brain
39	chr6:37027200-37027800	Flanking Active TSS	NHDF-Ad	bronchial
40	chr6:37027200-37027800	Flanking Active TSS	NHEK	skin
41	chr6:37027200-37027800	Flanking Active TSS	Osteobl	bone
42	chr6:37027200-37028000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:37027200-37028000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:37027200-37028000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:37027200-37028000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr6:37027200-37028000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:37027200-37028000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:37027200-37028000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:37027200-37028000	Enhancers	Fetal Lung	lung
50	chr6:37027200-37028000	Enhancers	Lung	lung

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