Variant report

Variant	rs7598431
Chromosome Location	chr2:210964379-210964380
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	chr2:210959050..210962473-chr2:210964159..210966144,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16843914	1.00[MEX][hapmap]
rs16843979	1.00[MEX][hapmap]
rs16843983	1.00[MEX][hapmap]
rs57949113	1.00[AMR][1000 genomes]
rs61407359	0.81[AFR][1000 genomes]
rs6739874	1.00[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap]
rs6758085	1.00[MEX][hapmap]
rs73984326	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984331	0.81[AFR][1000 genomes]
rs73984335	0.81[AFR][1000 genomes]
rs73984336	0.81[AFR][1000 genomes]
rs7593770	1.00[MEX][hapmap]

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:57 , 50 per page) page: 1 2

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	chr2:210920200-210968200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr2:210921000-210977200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:210921000-210980800	Weak transcription	Esophagus	oesophagus
7	chr2:210921200-210991200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:210922000-210977600	Weak transcription	Fetal Lung	lung
9	chr2:210924200-210964800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:210928200-210977400	Weak transcription	Aorta	Aorta
11	chr2:210928400-210971200	Weak transcription	Fetal Stomach	stomach
12	chr2:210928400-210973000	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:210928400-210977200	Weak transcription	Fetal Intestine Small	intestine
14	chr2:210928400-210977400	Weak transcription	Primary T cells from cord blood	blood
15	chr2:210928400-210980600	Weak transcription	Right Ventricle	heart
16	chr2:210929000-210971400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:210929600-210977400	Weak transcription	Thymus	Thymus
18	chr2:210932000-210977200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:210938200-210965800	Weak transcription	Fetal Thymus	thymus
20	chr2:210940600-210977600	Weak transcription	Adipose Nuclei	Adipose
21	chr2:210949000-210968400	Weak transcription	Brain Anterior Caudate	brain
22	chr2:210949400-210977000	Weak transcription	Brain Substantia Nigra	brain
23	chr2:210951200-210965800	Weak transcription	Liver	Liver
24	chr2:210951400-210972400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:210951400-210977600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:210952000-210964800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:210952600-210977400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:210953400-210980800	Weak transcription	Gastric	stomach
29	chr2:210953600-210980600	Weak transcription	Left Ventricle	heart
30	chr2:210956000-210990200	Weak transcription	HSMMtube	muscle
31	chr2:210956400-210971200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:210957200-210977400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:210959200-210965600	Weak transcription	Brain Angular Gyrus	brain
34	chr2:210959200-210968200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:210959400-210970400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:210959800-210977400	Weak transcription	Dnd41	blood
37	chr2:210960800-210980600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr2:210961200-210977000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:210961200-210977600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:210961400-210973000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:210961600-210964400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:210963000-210973800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:210963000-210974600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:210963000-210977800	Weak transcription	Psoas Muscle	Psoas
45	chr2:210963000-210980800	Weak transcription	Lung	lung
46	chr2:210963200-210976800	Weak transcription	HSMM	muscle
47	chr2:210963200-210977400	Weak transcription	Fetal Intestine Large	intestine
48	chr2:210963200-210977600	Weak transcription	Spleen	Spleen
49	chr2:210963400-210977400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:210963400-210995600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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