Variant report

Variant	rs13014613
Chromosome Location	chr2:58268373-58268374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:58268085..58271557-chr2:58272019..58276950,11	MCF-7	breast:
2	chr2:58268209..58270134-chr2:58271318..58274242,3	K562	blood:

Variant related genes	Relation type
ENSG00000028116	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10172295	0.81[JPT][hapmap]
rs1518401	1.00[YRI][hapmap]
rs17049305	0.92[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4672229	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6717480	0.82[JPT][hapmap]
rs7561688	0.84[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs7568266	0.85[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][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	nsv834159	chr2:58101262-58283655	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv999591	chr2:58214871-58316147	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv582097	chr2:58266099-58346966	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr2:58251400-58272000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:58256600-58271800	Weak transcription	Left Ventricle	heart
3	chr2:58256800-58272800	Weak transcription	Adipose Nuclei	Adipose
4	chr2:58256800-58273000	Weak transcription	Pancreas	Pancrea
5	chr2:58258200-58271800	Weak transcription	Brain Substantia Nigra	brain
6	chr2:58258400-58273000	Weak transcription	Liver	Liver
7	chr2:58258600-58272000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:58258800-58273000	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:58259400-58269400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:58260000-58272800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:58260200-58271800	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:58260400-58273400	Weak transcription	Ovary	ovary
13	chr2:58262200-58273000	Weak transcription	Psoas Muscle	Psoas
14	chr2:58263000-58272800	Weak transcription	Brain Anterior Caudate	brain
15	chr2:58266400-58272600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:58266600-58269000	Weak transcription	NH-A	brain
17	chr2:58266600-58269600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:58266600-58269600	Weak transcription	NHLF	lung
19	chr2:58266600-58271800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:58266600-58271800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:58266600-58272000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:58266600-58272400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:58266600-58273000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:58266600-58273200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:58266800-58268400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:58266800-58269000	Weak transcription	Esophagus	oesophagus
27	chr2:58266800-58269200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:58266800-58269400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:58266800-58269600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:58266800-58269600	Weak transcription	Osteobl	bone
31	chr2:58266800-58270800	Enhancers	HUVEC	blood vessel
32	chr2:58266800-58271800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:58266800-58272000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:58266800-58272000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:58266800-58273400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:58267000-58269400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:58267000-58269400	Weak transcription	NHDF-Ad	bronchial
38	chr2:58267000-58272400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr2:58267200-58271400	Weak transcription	Primary B cells from cord blood	blood
40	chr2:58267200-58271400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr2:58267200-58272400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr2:58267400-58269600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:58267400-58269600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:58267600-58268400	Enhancers	HMEC	breast
45	chr2:58267600-58268600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:58267800-58269400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:58267800-58269600	Enhancers	A549	lung
48	chr2:58268000-58269000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:58268000-58269600	Weak transcription	K562	blood
50	chr2:58268000-58270400	Enhancers	NHEK	skin

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