Variant report

Variant	rs1986744
Chromosome Location	chr2:153586957-153586958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153585697..153588131-chr2:153885435..153888127,2	K562	blood:
2	chr2:153586570..153590244-chr2:153591185..153594577,6	K562	blood:
3	chr2:153582588..153584915-chr2:153586087..153589184,3	MCF-7	breast:
4	chr2:153586570..153588683-chr2:153591987..153594284,2	K562	blood:
5	chr2:153583102..153585171-chr2:153586170..153588194,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1036525	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10497116	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13012521	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13021349	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17328643	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17400610	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17400736	1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs34043301	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34121167	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34419942	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6738344	0.82[CHB][hapmap];0.90[JPT][hapmap];0.85[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	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv1798142	chr2:153578113-153600123	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875293	chr2:153578900-153617420	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153575800-153587200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:153575800-153611600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:153575800-153611600	Weak transcription	Esophagus	oesophagus
4	chr2:153575800-153621400	Weak transcription	Pancreas	Pancrea
5	chr2:153576000-153594400	Weak transcription	Left Ventricle	heart
6	chr2:153576000-153615800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:153576200-153594800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:153576600-153587000	Weak transcription	Placenta	Placenta
9	chr2:153576800-153587200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:153576800-153591400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:153576800-153592600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:153576800-153592800	Weak transcription	NH-A	brain
13	chr2:153577000-153587200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:153577000-153592600	Weak transcription	Fetal Intestine Large	intestine
15	chr2:153577000-153592800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:153577000-153593000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:153577000-153593000	Weak transcription	Osteobl	bone
18	chr2:153577000-153594400	Weak transcription	Aorta	Aorta
19	chr2:153577000-153594600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:153577000-153595000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:153577200-153587000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:153577200-153592800	Weak transcription	Brain Anterior Caudate	brain
23	chr2:153577200-153593000	Weak transcription	Fetal Kidney	kidney
24	chr2:153577200-153593000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:153577200-153593400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:153577200-153594200	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:153577200-153594600	Weak transcription	Spleen	Spleen
28	chr2:153577200-153617600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:153577400-153587200	Weak transcription	Thymus	Thymus
30	chr2:153577400-153593000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:153577400-153593400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:153577600-153587000	Weak transcription	Fetal Thymus	thymus
33	chr2:153577600-153587200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:153577600-153594200	Weak transcription	Fetal Intestine Small	intestine
35	chr2:153577600-153617800	Weak transcription	NHLF	lung
36	chr2:153577800-153592800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:153577800-153593000	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:153577800-153593000	Weak transcription	Ovary	ovary
39	chr2:153577800-153594800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:153578200-153593400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:153578400-153587200	Weak transcription	Adipose Nuclei	Adipose
42	chr2:153578400-153591400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:153578400-153591800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr2:153578600-153605800	Weak transcription	Fetal Heart	heart
45	chr2:153578800-153591600	Weak transcription	Liver	Liver
46	chr2:153578800-153592800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr2:153578800-153592800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr2:153579000-153591400	Weak transcription	Brain Germinal Matrix	brain
49	chr2:153579000-153592600	Weak transcription	HUVEC	blood vessel
50	chr2:153579200-153587000	Weak transcription	HepG2	liver

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