Variant report

Variant	rs274012
Chromosome Location	chr7:137650044-137650045
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137637389..137645547-chr7:137646408..137651556,14	MCF-7	breast:
2	chr7:137648747..137651155-chr7:137659878..137663110,4	K562	blood:
3	chr7:137648747..137651155-chr7:137659021..137663110,4	K562	blood:
4	chr7:137646546..137650586-chr7:137681825..137685474,4	MCF-7	breast:
5	chr7:137647263..137650191-chr7:137679431..137682048,3	K562	blood:
6	chr7:137641810..137650191-chr7:137677657..137683130,9	K562	blood:
7	chr7:137618055..137619975-chr7:137649011..137650765,2	K562	blood:

Variant related genes	Relation type
ENSG00000237243	Chromatin interaction
ENSG00000182158	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs273975	1.00[CHB][hapmap];0.90[CHD][hapmap];0.85[ASN][1000 genomes]
rs273978	1.00[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs273979	0.85[CHB][hapmap]
rs273980	0.85[CHB][hapmap]
rs273983	1.00[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs273985	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs273987	0.85[CHB][hapmap]
rs273992	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs273994	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs273998	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs273999	0.96[ASN][1000 genomes]
rs274000	1.00[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs274001	0.92[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs274002	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs274004	0.87[JPT][hapmap]
rs274005	0.92[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs274008	0.92[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs274009	0.92[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs274010	0.92[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs274015	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28634773	0.94[ASN][1000 genomes]
rs9886131	0.92[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137621400-137651800	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr7:137635200-137663400	Weak transcription	Primary B cells from cord blood	blood
3	chr7:137635600-137650800	Weak transcription	Primary T cells from cord blood	blood
4	chr7:137636000-137650800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:137636200-137650600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr7:137639000-137654800	Weak transcription	Brain Angular Gyrus	brain
7	chr7:137639200-137650600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:137639400-137652000	Weak transcription	Colonic Mucosa	Colon
9	chr7:137639400-137655000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:137639600-137650800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:137640000-137654600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:137640200-137651600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:137640600-137652400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:137642200-137651600	Weak transcription	Fetal Heart	heart
15	chr7:137642400-137651800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:137642800-137651400	Weak transcription	HSMMtube	muscle
17	chr7:137642800-137652000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:137642800-137652200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:137643000-137652400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:137643600-137651800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:137643600-137652200	Weak transcription	Liver	Liver
22	chr7:137643800-137651600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:137643800-137654800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr7:137644000-137650600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:137644000-137650600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr7:137644000-137650600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:137644000-137652000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:137644000-137655400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:137644200-137651200	Weak transcription	Brain Substantia Nigra	brain
30	chr7:137644200-137651800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:137644200-137651800	Weak transcription	Psoas Muscle	Psoas
32	chr7:137644200-137652200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:137644200-137652200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:137644200-137652200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr7:137644200-137652200	Weak transcription	Stomach Mucosa	stomach
36	chr7:137644200-137653400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:137644400-137650800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr7:137644400-137651000	Weak transcription	A549	lung
39	chr7:137644400-137651800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:137646600-137650200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr7:137646600-137650600	Weak transcription	HMEC	breast
42	chr7:137646600-137650800	Weak transcription	Brain Anterior Caudate	brain
43	chr7:137646600-137651400	Weak transcription	HSMM	muscle
44	chr7:137646600-137652200	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:137646600-137657600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr7:137646800-137650400	Weak transcription	Adipose Nuclei	Adipose
47	chr7:137646800-137650600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr7:137646800-137650600	Weak transcription	NH-A	brain
49	chr7:137646800-137651800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr7:137647000-137650400	Weak transcription	Monocytes-CD14+_RO01746	blood

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