Variant report

Variant	rs13419514
Chromosome Location	chr2:190409607-190409608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190401662..190405486-chr2:190407018..190410540,7	K562	blood:
2	chr2:190404115..190405924-chr2:190407998..190410767,2	MCF-7	breast:
3	chr2:190406738..190410558-chr2:190411483..190414461,4	MCF-7	breast:
4	chr2:190401662..190406331-chr2:190407018..190410749,6	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10173590	0.85[AFR][1000 genomes]
rs10188755	0.85[AFR][1000 genomes]
rs10195345	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13388478	0.84[AFR][1000 genomes]
rs13398454	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs13399776	0.84[AFR][1000 genomes]
rs13404407	1.00[YRI][hapmap]
rs13411677	0.92[AFR][1000 genomes]
rs13419629	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs13420166	0.92[AFR][1000 genomes]
rs13420264	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs13431938	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs13432175	0.85[AFR][1000 genomes]
rs28435467	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190399400-190410200	Weak transcription	Aorta	Aorta
2	chr2:190400400-190410000	Weak transcription	Fetal Lung	lung
3	chr2:190406600-190409800	Weak transcription	Ovary	ovary
4	chr2:190407000-190413400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:190407400-190424200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:190407600-190413000	Weak transcription	A549	lung
7	chr2:190408000-190413400	Weak transcription	HepG2	liver
8	chr2:190408000-190416600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:190408200-190416600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:190408200-190420600	Weak transcription	Small Intestine	intestine
11	chr2:190408400-190409800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:190408400-190410000	Enhancers	Adipose Nuclei	Adipose
13	chr2:190408400-190410000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr2:190408600-190413800	Weak transcription	Right Atrium	heart
15	chr2:190408800-190413800	Weak transcription	Stomach Mucosa	stomach
16	chr2:190408800-190416400	Weak transcription	Fetal Intestine Large	intestine
17	chr2:190408800-190422400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:190409000-190410200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:190409200-190410000	Enhancers	Psoas Muscle	Psoas
20	chr2:190409200-190410000	Enhancers	Stomach Smooth Muscle	stomach
21	chr2:190409400-190409800	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:190409400-190409800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:190409400-190410200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:190409400-190410400	Enhancers	Fetal Muscle Leg	muscle
25	chr2:190409400-190410800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:190409600-190410200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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