Variant report

Variant	rs12645655
Chromosome Location	chr4:129237524-129237525
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129236636..129238929-chr4:129241545..129243583,2	MCF-7	breast:
2	chr4:129207370..129211584-chr4:129236751..129241056,5	MCF-7	breast:
3	chr4:129228838..129233449-chr4:129235389..129238909,4	K562	blood:
4	chr4:129228838..129231737-chr4:129235389..129238186,3	K562	blood:

Variant related genes	Relation type
ENSG00000164040	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12499030	0.86[AFR][1000 genomes]
rs12508205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17337491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975182	1.00[CHB][hapmap]
rs55938082	0.83[AMR][1000 genomes]
rs6534679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6822446	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129210200-129245800	Weak transcription	Esophagus	oesophagus
2	chr4:129210400-129238000	Weak transcription	Thymus	Thymus
3	chr4:129210400-129240000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:129210400-129246400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr4:129210400-129247600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:129210600-129249800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr4:129211000-129244200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr4:129211000-129246400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr4:129211200-129244000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:129211200-129248200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr4:129211200-129254400	Weak transcription	Brain Substantia Nigra	brain
12	chr4:129221600-129247000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:129222200-129264200	Weak transcription	Fetal Thymus	thymus
14	chr4:129223200-129244000	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:129225200-129252200	Weak transcription	Spleen	Spleen
16	chr4:129226600-129244000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:129226800-129243000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:129226800-129244200	Weak transcription	Primary B cells from cord blood	blood
19	chr4:129227400-129243000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:129227600-129242800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:129228000-129239000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:129229000-129242400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:129229000-129243200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:129229200-129239600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:129230000-129246600	Weak transcription	Brain Angular Gyrus	brain
26	chr4:129231600-129242800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:129231600-129251200	Weak transcription	Aorta	Aorta
28	chr4:129231800-129237600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr4:129231800-129238000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr4:129231800-129243800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:129231800-129245600	Weak transcription	Brain Anterior Caudate	brain
32	chr4:129231800-129251800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:129231800-129252600	Weak transcription	Lung	lung
34	chr4:129231800-129255000	Weak transcription	Left Ventricle	heart
35	chr4:129231800-129261000	Weak transcription	Adipose Nuclei	Adipose
36	chr4:129232000-129242200	Weak transcription	HSMM	muscle
37	chr4:129232200-129244000	Weak transcription	Fetal Muscle Leg	muscle
38	chr4:129232400-129244000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr4:129233000-129247800	Weak transcription	Pancreas	Pancrea
40	chr4:129233600-129245800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr4:129233600-129251600	Weak transcription	Fetal Heart	heart
42	chr4:129233800-129241000	Weak transcription	Liver	Liver
43	chr4:129234400-129246400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr4:129235600-129238800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:129235600-129241400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:129235800-129238600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:129235800-129238600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:129235800-129238600	Enhancers	NHEK	skin
49	chr4:129235800-129238800	Enhancers	HMEC	breast
50	chr4:129236200-129238000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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