Variant report

Variant	rs34291375
Chromosome Location	chr19:45505023-45505024
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45457626..45460378-chr19:45504209..45506366,2	K562	blood:
2	chr19:45457040..45461347-chr19:45503063..45506816,5	MCF-7	breast:
3	chr19:45490678..45494511-chr19:45503464..45506628,7	MCF-7	breast:
4	chr19:45348609..45350168-chr19:45503590..45505926,2	MCF-7	breast:
5	chr19:45501410..45502926-chr19:45505008..45507796,2	K562	blood:
6	chr19:45503982..45506844-chr19:45681115..45683310,3	K562	blood:
7	chr19:45503572..45506641-chr19:45540326..45544478,12	K562	blood:
8	chr19:45489822..45493191-chr19:45503096..45506016,6	MCF-7	breast:
9	chr19:45504787..45505466-chr19:45594557..45595320,2	MCF-7	breast:
10	chr19:45393446..45395267-chr19:45504839..45507035,2	K562	blood:
11	chr19:45504876..45506868-chr19:45579747..45581277,2	K562	blood:
12	chr1:210547016..210547753-chr19:45504726..45505434,2	Hela-S3	cervix:
13	chr19:45503112..45505158-chr19:45541115..45543743,3	MCF-7	breast:
14	chr19:45503629..45506931-chr19:45593767..45597738,4	K562	blood:
15	chr19:45457197..45460105-chr19:45503171..45507688,6	MCF-7	breast:
16	chr19:45503953..45506681-chr19:45580953..45583246,3	MCF-7	breast:
17	chr19:45503501..45505933-chr19:45581021..45583164,2	MCF-7	breast:
18	chr19:45503630..45506563-chr19:45593514..45596516,3	MCF-7	breast:
19	chr19:45503584..45506376-chr19:45577554..45581342,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000130202	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000267348	Chromatin interaction
ENSG00000267545	Chromatin interaction
ENSG00000267282	Chromatin interaction
ENSG00000170684	Chromatin interaction
ENSG00000007047	Chromatin interaction
ENSG00000007255	Chromatin interaction
ENSG00000189114	Chromatin interaction
ENSG00000130204	Chromatin interaction
ENSG00000267114	Chromatin interaction
ENSG00000142252	Chromatin interaction
ENSG00000104859	Chromatin interaction
ENSG00000104866	Chromatin interaction
ENSG00000104853	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12721060	1.00[YRI][hapmap]
rs36101520	0.90[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912134	chr19:45395619-45528799	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv912141	chr19:45491174-45519100	Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv3386467	chr19:45503612-45506810	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
4	esv3345062	chr19:45504062-45506660	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45504200-45505200	Active TSS	Fetal Brain Male	brain
2	chr19:45504200-45505400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:45504200-45505600	Active TSS	Psoas Muscle	Psoas
4	chr19:45504200-45505600	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr19:45504200-45505800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr19:45504200-45505800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:45504200-45505800	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr19:45504200-45505800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr19:45504200-45505800	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr19:45504200-45505800	Active TSS	Brain Germinal Matrix	brain
11	chr19:45504200-45505800	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr19:45504200-45505800	Active TSS	Fetal Brain Female	brain
13	chr19:45504200-45505800	Active TSS	Fetal Lung	lung
14	chr19:45504200-45505800	Active TSS	Right Atrium	heart
15	chr19:45504200-45505800	Active TSS	Thymus	Thymus
16	chr19:45504200-45506000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:45504200-45506000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:45504400-45505200	Active TSS	Primary B cells from cord blood	blood
19	chr19:45504400-45505200	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr19:45504400-45505200	Active TSS	Esophagus	oesophagus
21	chr19:45504400-45505600	Active TSS	H9 Cell Line	embryonic stem cell
22	chr19:45504400-45505600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:45504400-45505600	Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr19:45504400-45505600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr19:45504400-45505600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:45504400-45505600	Active TSS	Muscle Satellite Cultured Cells	--
27	chr19:45504400-45505600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:45504400-45505600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:45504400-45505600	Active TSS	Adipose Nuclei	Adipose
30	chr19:45504400-45505600	Active TSS	Brain Anterior Caudate	brain
31	chr19:45504400-45505600	Active TSS	Brain Substantia Nigra	brain
32	chr19:45504400-45505600	Active TSS	Monocytes-CD14+_RO01746	blood
33	chr19:45504400-45505800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:45504400-45505800	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr19:45504400-45505800	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr19:45504400-45505800	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr19:45504400-45505800	Active TSS	Primary T cells from cord blood	blood
38	chr19:45504400-45505800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr19:45504400-45505800	Active TSS	Brain Angular Gyrus	brain
40	chr19:45504400-45505800	Active TSS	Brain Cingulate Gyrus	brain
41	chr19:45504400-45505800	Active TSS	Colon Smooth Muscle	Colon
42	chr19:45504400-45505800	Active TSS	Fetal Kidney	kidney
43	chr19:45504400-45505800	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr19:45504400-45505800	Active TSS	Ovary	ovary
45	chr19:45504400-45505800	Active TSS	Right Ventricle	heart
46	chr19:45504400-45505800	Active TSS	A549	lung
47	chr19:45504400-45505800	Active TSS	Hela-S3	cervix
48	chr19:45504400-45505800	Active TSS	HMEC	breast
49	chr19:45504400-45505800	Active TSS	K562	blood
50	chr19:45504400-45506000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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