Variant report

Variant	rs7591928
Chromosome Location	chr2:210957129-210957130
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:210955119..210957612-chr2:211034248..211035878,2	K562	blood:
2	chr2:210956589..210959472-chr2:211000390..211002980,2	MCF-7	breast:
3	chr2:210953484..210955348-chr2:210955891..210958293,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144445	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10932315	1.00[YRI][hapmap]
rs12104563	1.00[AMR][1000 genomes]
rs12105657	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59776875	1.00[AMR][1000 genomes]
rs6714369	1.00[AMR][1000 genomes]
rs9749853	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1004426	chr2:210709999-211001680	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210894000-210969400	Weak transcription	Fetal Kidney	kidney
2	chr2:210911600-210980800	Weak transcription	Pancreas	Pancrea
3	chr2:210913000-210964400	Weak transcription	Primary B cells from cord blood	blood
4	chr2:210920200-210963800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:210920200-210968200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:210921000-210977200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:210921000-210980800	Weak transcription	Esophagus	oesophagus
8	chr2:210921200-210991200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:210922000-210977600	Weak transcription	Fetal Lung	lung
10	chr2:210924200-210962400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:210924200-210962400	Weak transcription	Fetal Intestine Large	intestine
12	chr2:210924200-210964800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:210928200-210977400	Weak transcription	Aorta	Aorta
14	chr2:210928400-210971200	Weak transcription	Fetal Stomach	stomach
15	chr2:210928400-210973000	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:210928400-210977200	Weak transcription	Fetal Intestine Small	intestine
17	chr2:210928400-210977400	Weak transcription	Primary T cells from cord blood	blood
18	chr2:210928400-210980600	Weak transcription	Right Ventricle	heart
19	chr2:210929000-210971400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:210929600-210977400	Weak transcription	Thymus	Thymus
21	chr2:210932000-210977200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:210938000-210962000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:210938200-210965800	Weak transcription	Fetal Thymus	thymus
24	chr2:210940600-210977600	Weak transcription	Adipose Nuclei	Adipose
25	chr2:210949000-210968400	Weak transcription	Brain Anterior Caudate	brain
26	chr2:210949400-210977000	Weak transcription	Brain Substantia Nigra	brain
27	chr2:210951200-210961000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:210951200-210965800	Weak transcription	Liver	Liver
29	chr2:210951400-210972400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:210951400-210977600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:210952000-210964800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:210952600-210977400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:210953400-210980800	Weak transcription	Gastric	stomach
34	chr2:210953600-210980600	Weak transcription	Left Ventricle	heart
35	chr2:210953800-210964200	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:210954400-210962200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:210956000-210990200	Weak transcription	HSMMtube	muscle
38	chr2:210956400-210971200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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