Variant report

Variant	rs273971
Chromosome Location	chr7:137587244-137587245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137586611..137590329-chr7:137683415..137689120,5	MCF-7	breast:
2	chr7:137587004..137588970-chr7:137694477..137697476,2	K562	blood:
3	chr7:137587081..137590120-chr7:137692557..137694516,4	MCF-7	breast:
4	chr7:137583170..137588345-chr7:137688405..137691754,4	K562	blood:

Variant related genes	Relation type
ENSG00000122787	Chromatin interaction
ENSG00000182158	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1646539	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1646540	0.88[CEU][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1677498	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1677499	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs2007564	0.84[CEU][hapmap]
rs273936	0.82[CHB][hapmap]
rs273938	0.80[CEU][hapmap];0.91[CHB][hapmap]
rs273939	0.82[CHB][hapmap]
rs273940	0.90[CHB][hapmap]
rs273941	0.82[CHB][hapmap]
rs273942	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs273944	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs273969	0.84[CEU][hapmap]
rs273970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs765229	0.83[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	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	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
3	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137558800-137588400	Weak transcription	Stomach Mucosa	stomach
2	chr7:137571800-137588200	Weak transcription	Brain Angular Gyrus	brain
3	chr7:137575400-137591800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:137578400-137588200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:137579400-137588200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:137580000-137588400	Weak transcription	Fetal Kidney	kidney
7	chr7:137581000-137588400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:137581000-137589800	Weak transcription	Spleen	Spleen
9	chr7:137584000-137588200	Strong transcription	Fetal Intestine Small	intestine
10	chr7:137584000-137588600	Strong transcription	Fetal Stomach	stomach
11	chr7:137584200-137588600	Strong transcription	HepG2	liver
12	chr7:137584200-137588600	Strong transcription	HSMMtube	muscle
13	chr7:137584200-137588800	Strong transcription	NHEK	skin
14	chr7:137584200-137601000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:137584200-137612000	Weak transcription	Fetal Brain Male	brain
16	chr7:137584400-137587400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:137584400-137588200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:137584400-137588200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:137584400-137588200	Strong transcription	Duodenum Mucosa	Duodenum
20	chr7:137584400-137588200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:137584400-137588400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr7:137584400-137588400	Strong transcription	Stomach Smooth Muscle	stomach
23	chr7:137584400-137588600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:137584400-137588600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:137584400-137588600	Weak transcription	Aorta	Aorta
26	chr7:137584400-137588600	Strong transcription	NH-A	brain
27	chr7:137584400-137589000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr7:137584400-137589800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:137584400-137590200	Weak transcription	Small Intestine	intestine
30	chr7:137584400-137591800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:137584400-137593200	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr7:137584400-137597200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr7:137584400-137601600	Strong transcription	Fetal Intestine Large	intestine
34	chr7:137584600-137587600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr7:137584600-137587800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:137584600-137587800	Weak transcription	Fetal Thymus	thymus
37	chr7:137584600-137588000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr7:137584600-137588200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:137584600-137588200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:137584600-137588200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:137584600-137588200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:137584600-137588200	Weak transcription	Dnd41	blood
43	chr7:137584600-137588400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr7:137584600-137588400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:137584600-137588400	Weak transcription	Brain Anterior Caudate	brain
46	chr7:137584600-137588600	Weak transcription	Thymus	Thymus
47	chr7:137584600-137589000	Strong transcription	HSMM	muscle
48	chr7:137584600-137591600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:137584600-137591600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:137584600-137592800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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