Variant report

Variant	rs7591314
Chromosome Location	chr2:30640768-30640769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30628448..30631665-chr2:30638243..30640996,3	K562	blood:
2	chr2:30453072..30455875-chr2:30639708..30641710,2	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17009492	1.00[AMR][1000 genomes]
rs17009527	1.00[AMR][1000 genomes]
rs17009547	1.00[AMR][1000 genomes]
rs17009671	1.00[AMR][1000 genomes]
rs2120343	1.00[AMR][1000 genomes]
rs60288309	1.00[AMR][1000 genomes]
rs61043924	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv1799950	chr2:30632520-30654319	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30627600-30647200	Weak transcription	Brain Angular Gyrus	brain
2	chr2:30628000-30644400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:30632200-30644600	Weak transcription	Esophagus	oesophagus
4	chr2:30633800-30644000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:30633800-30644000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:30634000-30644400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:30634800-30644000	Weak transcription	Thymus	Thymus
8	chr2:30635200-30643800	Weak transcription	Fetal Thymus	thymus
9	chr2:30636400-30644000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:30636400-30644400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:30636400-30644400	Weak transcription	Gastric	stomach
12	chr2:30636800-30644400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:30637200-30644000	Weak transcription	Right Ventricle	heart
14	chr2:30637400-30644200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:30637400-30644600	Weak transcription	Fetal Brain Male	brain
16	chr2:30639000-30640800	Enhancers	Ovary	ovary
17	chr2:30639200-30640800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:30639600-30640800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:30639600-30640800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:30639600-30641000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:30640000-30644200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:30640000-30644400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:30640200-30644000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:30640200-30644400	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:30640200-30644400	Weak transcription	Right Atrium	heart
26	chr2:30640200-30644400	Weak transcription	Small Intestine	intestine
27	chr2:30640200-30644600	Weak transcription	Adipose Nuclei	Adipose
28	chr2:30640400-30643800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:30640400-30643800	Weak transcription	Fetal Lung	lung
30	chr2:30640400-30643800	Weak transcription	K562	blood
31	chr2:30640400-30644000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:30640400-30644000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:30640400-30644000	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:30640400-30644000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:30640400-30644000	Weak transcription	Fetal Stomach	stomach
36	chr2:30640400-30644000	Weak transcription	Left Ventricle	heart
37	chr2:30640400-30644000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:30640400-30644000	Weak transcription	A549	lung
39	chr2:30640400-30644000	Weak transcription	NH-A	brain
40	chr2:30640400-30644200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:30640400-30644200	Weak transcription	Fetal Kidney	kidney
42	chr2:30640400-30644400	Weak transcription	Placenta	Placenta
43	chr2:30640400-30644600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:30640600-30642800	Weak transcription	Fetal Heart	heart
45	chr2:30640600-30643600	Weak transcription	NHDF-Ad	bronchial
46	chr2:30640600-30643600	Weak transcription	NHLF	lung
47	chr2:30640600-30644000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:30640600-30644000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:30640600-30644000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:30640600-30644000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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