Variant report

Variant	rs1349095
Chromosome Location	chr2:187548738-187548739
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187546858..187548857-chr2:187556731..187560793,3	K562	blood:
2	chr2:187547487..187550393-chr2:187552355..187554929,3	K562	blood:
3	chr2:187543296..187546099-chr2:187546691..187548882,2	K562	blood:

Variant related genes	Relation type
ENSG00000227227	Chromatin interaction
ENSG00000144369	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16827838	1.00[AMR][1000 genomes]
rs17750683	1.00[YRI][hapmap]

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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187536400-187550000	Weak transcription	Gastric	stomach
2	chr2:187538200-187552800	Weak transcription	Brain Substantia Nigra	brain
3	chr2:187539200-187557800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:187541600-187550800	Weak transcription	Lung	lung
5	chr2:187541800-187550400	Weak transcription	Fetal Stomach	stomach
6	chr2:187541800-187552800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:187541800-187558400	Weak transcription	Left Ventricle	heart
8	chr2:187542000-187549600	Weak transcription	Right Ventricle	heart
9	chr2:187542000-187550200	Weak transcription	Aorta	Aorta
10	chr2:187542000-187550200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:187542000-187555400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:187542600-187549000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:187543200-187549000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:187543400-187549600	Weak transcription	Fetal Intestine Large	intestine
15	chr2:187543400-187558200	Weak transcription	NHDF-Ad	bronchial
16	chr2:187543600-187548800	Weak transcription	Brain Anterior Caudate	brain
17	chr2:187543600-187558200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:187543800-187549600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:187546000-187552000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:187546200-187558200	Weak transcription	Placenta	Placenta
21	chr2:187546400-187549200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr2:187546600-187549200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:187546800-187549200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:187546800-187549400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:187546800-187549600	Weak transcription	NH-A	brain
26	chr2:187546800-187558000	Weak transcription	A549	lung
27	chr2:187547200-187549800	Weak transcription	HSMMtube	muscle
28	chr2:187547200-187549800	Weak transcription	HUVEC	blood vessel
29	chr2:187547200-187550000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:187548200-187549000	Enhancers	H9 Cell Line	embryonic stem cell

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