Variant report

Variant	rs60258744
Chromosome Location	chr2:187547306-187547307
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	chr2:187546858..187548857-chr2:187556731..187560793,3	K562	blood:
2	chr2:187543296..187546099-chr2:187546691..187548882,2	K562	blood:

Variant related genes	Relation type
ENSG00000144369	Chromatin interaction
ENSG00000227227	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs61763155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62197740	1.00[AMR][1000 genomes]
rs62200585	1.00[AMR][1000 genomes]
rs73979356	1.00[AMR][1000 genomes]
rs73979378	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	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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187501000-187548400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:187528000-187548000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:187529000-187548200	Weak transcription	Stomach Mucosa	stomach
4	chr2:187536200-187548200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:187536400-187550000	Weak transcription	Gastric	stomach
6	chr2:187537600-187547400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:187538000-187548400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:187538200-187547800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:187538200-187552800	Weak transcription	Brain Substantia Nigra	brain
10	chr2:187539200-187557800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:187539400-187548400	Weak transcription	Spleen	Spleen
12	chr2:187540000-187548600	Weak transcription	Fetal Kidney	kidney
13	chr2:187540400-187548200	Weak transcription	GM12878-XiMat	blood
14	chr2:187541400-187548600	Weak transcription	Colonic Mucosa	Colon
15	chr2:187541600-187548400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:187541600-187550800	Weak transcription	Lung	lung
17	chr2:187541800-187548200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:187541800-187548200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:187541800-187548400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:187541800-187548400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:187541800-187548600	Weak transcription	Fetal Intestine Small	intestine
22	chr2:187541800-187550400	Weak transcription	Fetal Stomach	stomach
23	chr2:187541800-187552800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:187541800-187558400	Weak transcription	Left Ventricle	heart
25	chr2:187542000-187547800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:187542000-187549600	Weak transcription	Right Ventricle	heart
27	chr2:187542000-187550200	Weak transcription	Aorta	Aorta
28	chr2:187542000-187550200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:187542000-187555400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:187542200-187547800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:187542400-187548000	Weak transcription	HepG2	liver
32	chr2:187542400-187548200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:187542600-187547800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:187542600-187548000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:187542600-187549000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:187543200-187549000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:187543400-187549600	Weak transcription	Fetal Intestine Large	intestine
38	chr2:187543400-187558200	Weak transcription	NHDF-Ad	bronchial
39	chr2:187543600-187547800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:187543600-187548000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:187543600-187548000	Weak transcription	Fetal Lung	lung
42	chr2:187543600-187548200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:187543600-187548400	Weak transcription	Liver	Liver
44	chr2:187543600-187548400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:187543600-187548800	Weak transcription	Brain Anterior Caudate	brain
46	chr2:187543600-187558200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:187543800-187549600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:187544600-187547800	Weak transcription	HSMM	muscle
49	chr2:187545000-187548000	Weak transcription	Osteobl	bone
50	chr2:187545000-187548400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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