Variant report

Variant	rs12647536
Chromosome Location	chr4:129212911-129212912
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129209990..129212940-chr4:129306531..129308783,2	MCF-7	breast:
2	chr4:129209335..129213237-chr4:129730288..129733311,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LARP1B-1	chr4:129209986-129214460	NONHSAT098262

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10001857	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12509379	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3733260	0.95[EUR][1000 genomes]
rs3796500	0.94[EUR][1000 genomes]
rs41300367	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4975198	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6816322	0.89[ASN][1000 genomes]
rs7677888	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7680523	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7681053	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7681074	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7682168	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9683654	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129210000-129224400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:129210200-129216400	Weak transcription	Spleen	Spleen
3	chr4:129210200-129228600	Weak transcription	Left Ventricle	heart
4	chr4:129210200-129230400	Weak transcription	Ovary	ovary
5	chr4:129210200-129245800	Weak transcription	Esophagus	oesophagus
6	chr4:129210400-129213400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:129210400-129213400	Weak transcription	Liver	Liver
8	chr4:129210400-129215600	Weak transcription	Stomach Mucosa	stomach
9	chr4:129210400-129215800	Weak transcription	Adipose Nuclei	Adipose
10	chr4:129210400-129216400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:129210400-129217600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:129210400-129218000	Weak transcription	Fetal Intestine Small	intestine
13	chr4:129210400-129218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:129210400-129222400	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:129210400-129226200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:129210400-129227200	Weak transcription	Pancreas	Pancrea
17	chr4:129210400-129227800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:129210400-129231000	Weak transcription	HSMMtube	muscle
19	chr4:129210400-129231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:129210400-129235800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:129210400-129238000	Weak transcription	Thymus	Thymus
22	chr4:129210400-129240000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:129210400-129246400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr4:129210400-129247600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr4:129210600-129213400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:129210600-129215600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:129210600-129218000	Weak transcription	Primary B cells from cord blood	blood
28	chr4:129210600-129222800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:129210600-129231000	Weak transcription	Osteobl	bone
30	chr4:129210600-129249800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr4:129210800-129214200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:129210800-129219400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:129210800-129221200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:129210800-129226400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:129210800-129227800	Weak transcription	Fetal Brain Male	brain
36	chr4:129210800-129230400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:129210800-129233000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr4:129211000-129215600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:129211000-129218600	Weak transcription	Primary T cells from cord blood	blood
40	chr4:129211000-129226200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr4:129211000-129231000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr4:129211000-129244200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr4:129211000-129246400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr4:129211200-129214000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr4:129211200-129216400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr4:129211200-129216600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:129211200-129217200	Weak transcription	Placenta	Placenta
48	chr4:129211200-129220000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:129211200-129223400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:129211200-129231200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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