Variant report

Variant	rs60339626
Chromosome Location	chr2:190407065-190407066
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190349773..190352043-chr2:190405227..190407420,2	MCF-7	breast:
2	chr2:190397457..190400207-chr2:190405459..190407233,2	MCF-7	breast:
3	chr2:190405049..190407108-chr2:190538647..190540398,2	MCF-7	breast:
4	chr2:190401662..190405486-chr2:190407018..190410540,7	K562	blood:
5	chr2:190403306..190405315-chr2:190406794..190408650,2	MCF-7	breast:
6	chr2:190393626..190396210-chr2:190405499..190408344,2	K562	blood:
7	chr2:190406617..190409295-chr2:190461798..190465835,3	MCF-7	breast:
8	chr2:190405718..190408733-chr2:190524469..190527612,3	MCF-7	breast:
9	chr2:190306234..190308352-chr2:190404768..190407547,3	MCF-7	breast:
10	chr2:190406738..190410558-chr2:190411483..190414461,4	MCF-7	breast:
11	chr2:190401662..190406331-chr2:190407018..190410749,6	K562	blood:
12	chr2:190405839..190407913-chr2:190491437..190493311,2	MCF-7	breast:
13	chr2:190386851..190389164-chr2:190404426..190407067,2	K562	blood:
14	chr2:190403642..190408765-chr2:190418705..190422272,7	MCF-7	breast:
15	chr2:190405534..190408466-chr2:190424472..190427458,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000138381	Chromatin interaction
ENSG00000151687	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10931427	1.00[AMR][1000 genomes]
rs4667291	1.00[AMR][1000 genomes]
rs55979997	0.83[AFR][1000 genomes]
rs56087520	0.81[AFR][1000 genomes]
rs57804388	0.85[AFR][1000 genomes]
rs73980205	0.85[AFR][1000 genomes]
rs7562466	1.00[AMR][1000 genomes]
rs7570328	1.00[AMR][1000 genomes]
rs7599914	1.00[AMR][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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190399400-190410200	Weak transcription	Aorta	Aorta
2	chr2:190400400-190407200	Weak transcription	A549	lung
3	chr2:190400400-190410000	Weak transcription	Fetal Lung	lung
4	chr2:190400800-190408400	Weak transcription	Adipose Nuclei	Adipose
5	chr2:190401000-190409400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:190404800-190408800	Enhancers	Stomach Mucosa	stomach
7	chr2:190405000-190408200	Enhancers	Fetal Intestine Large	intestine
8	chr2:190405200-190407200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:190405200-190408200	Enhancers	Fetal Intestine Small	intestine
10	chr2:190405600-190409600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:190405800-190408000	Enhancers	HepG2	liver
12	chr2:190406000-190407400	Enhancers	Placenta	Placenta
13	chr2:190406000-190407600	Enhancers	Psoas Muscle	Psoas
14	chr2:190406000-190408000	Enhancers	Duodenum Mucosa	Duodenum
15	chr2:190406000-190408200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr2:190406200-190407200	Enhancers	Rectal Smooth Muscle	rectum
17	chr2:190406200-190407400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr2:190406200-190407400	Enhancers	K562	blood
19	chr2:190406600-190407200	Weak transcription	Small Intestine	intestine
20	chr2:190406600-190409000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:190406600-190409800	Weak transcription	Ovary	ovary
22	chr2:190407000-190408400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:190407000-190409200	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:190407000-190409200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:190407000-190413400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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