Variant report

Variant	rs12595709
Chromosome Location	chr15:34429608-34429609
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	chr15:34427280..34431137-chr15:34431263..34436776,5	K562	blood:
2	chr15:34429122..34431401-chr15:34501177..34503690,2	K562	blood:

Variant related genes	Relation type
ENSG00000134152	Chromatin interaction

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

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

rs_ID	r²[population]
rs11073002	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12592585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2339367	1.00[AMR][1000 genomes]
rs4780222	1.00[YRI][hapmap]
rs6495645	0.82[YRI][hapmap]
rs7164072	0.86[AFR][1000 genomes]
rs7179357	1.00[AMR][1000 genomes]
rs7180027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7181990	0.86[AFR][1000 genomes]
rs7183322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8031420	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8035014	1.00[AMR][1000 genomes]
rs9920644	0.86[AFR][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	nsv1035579	chr15:34363159-34501115	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34415400-34434600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:34415600-34431400	Weak transcription	NH-A	brain
3	chr15:34415600-34432800	Weak transcription	Osteobl	bone
4	chr15:34415800-34432800	Weak transcription	NHDF-Ad	bronchial
5	chr15:34416200-34439200	Weak transcription	HUVEC	blood vessel
6	chr15:34417600-34431400	Weak transcription	HSMMtube	muscle
7	chr15:34417600-34439400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr15:34417800-34436800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:34419200-34431200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr15:34419400-34429800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:34419400-34430600	Weak transcription	HMEC	breast
12	chr15:34419400-34434800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:34419400-34441800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:34421800-34431600	Weak transcription	HSMM	muscle
15	chr15:34422000-34431400	Weak transcription	Primary T cells from cord blood	blood
16	chr15:34422600-34431000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr15:34423600-34430200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:34423600-34434600	Weak transcription	Left Ventricle	heart
19	chr15:34424400-34446400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr15:34424800-34431600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr15:34424800-34432400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr15:34425200-34432400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr15:34425400-34431400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:34425400-34438200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr15:34425800-34432200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr15:34425800-34439800	Weak transcription	Brain Hippocampus Middle	brain
27	chr15:34426200-34431800	Weak transcription	Fetal Intestine Large	intestine
28	chr15:34426400-34431400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:34426400-34434600	Weak transcription	Right Ventricle	heart
30	chr15:34427200-34431600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr15:34427400-34435400	Weak transcription	Fetal Stomach	stomach
32	chr15:34427600-34437000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr15:34427800-34430000	Weak transcription	Fetal Intestine Small	intestine
34	chr15:34427800-34431800	Weak transcription	NHLF	lung
35	chr15:34427800-34432000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr15:34427800-34434600	Weak transcription	NHEK	skin
37	chr15:34427800-34446400	Weak transcription	Psoas Muscle	Psoas
38	chr15:34428000-34431400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr15:34428000-34431400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr15:34428000-34431600	Weak transcription	Fetal Lung	lung
41	chr15:34428000-34434800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr15:34428000-34438400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:34428000-34441800	Weak transcription	Esophagus	oesophagus
44	chr15:34428200-34429800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr15:34428200-34431000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr15:34428200-34435400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr15:34428400-34430600	Weak transcription	A549	lung
48	chr15:34428400-34431200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr15:34428400-34432600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr15:34428400-34439800	Weak transcription	Thymus	Thymus

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