Variant report

Variant	rs7596205
Chromosome Location	chr2:190428193-190428194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10206036	1.00[JPT][hapmap]
rs13403567	1.00[YRI][hapmap]
rs16831659	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1966704	0.84[EUR][1000 genomes]
rs2043933	1.00[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2165180	0.93[EUR][1000 genomes]
rs4667287	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.99[EUR][1000 genomes]
rs6434347	0.93[EUR][1000 genomes]
rs744653	1.00[JPT][hapmap]
rs994226	1.00[CEU][hapmap];0.99[EUR][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7596205	HIBCH	cis	parietal	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190415400-190428400	Weak transcription	HSMM	muscle
2	chr2:190417000-190431000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:190417400-190433600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:190419800-190428400	Weak transcription	Lung	lung
5	chr2:190420800-190428200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:190420800-190428400	Weak transcription	Fetal Thymus	thymus
7	chr2:190421000-190428600	Weak transcription	Fetal Brain Female	brain
8	chr2:190421000-190431000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:190421000-190431400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:190422400-190428400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:190422800-190428600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:190424200-190429600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:190424600-190428200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:190424600-190428200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:190424600-190428600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:190424600-190432800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:190424600-190433600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:190424800-190428200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr2:190424800-190428200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:190424800-190428200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:190424800-190428400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:190424800-190428400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:190424800-190428400	Weak transcription	Gastric	stomach
24	chr2:190424800-190428400	Weak transcription	Right Ventricle	heart
25	chr2:190424800-190428400	Weak transcription	Spleen	Spleen
26	chr2:190424800-190429000	Weak transcription	Stomach Mucosa	stomach
27	chr2:190424800-190429400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:190424800-190429800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:190424800-190431600	Weak transcription	Psoas Muscle	Psoas
30	chr2:190424800-190433600	Weak transcription	Brain Anterior Caudate	brain
31	chr2:190424800-190435600	Weak transcription	Esophagus	oesophagus
32	chr2:190424800-190441800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:190424800-190444400	Weak transcription	Brain Substantia Nigra	brain
34	chr2:190425000-190428200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:190425000-190428200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:190425000-190428400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:190425000-190428400	Weak transcription	A549	lung
38	chr2:190425000-190428400	Weak transcription	HUVEC	blood vessel
39	chr2:190425000-190430200	Weak transcription	NHDF-Ad	bronchial
40	chr2:190425000-190431800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:190425000-190433600	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr2:190425000-190433800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:190425000-190435400	Weak transcription	Right Atrium	heart
44	chr2:190425200-190428400	Weak transcription	HepG2	liver
45	chr2:190425200-190430800	Weak transcription	NHLF	lung
46	chr2:190425200-190433600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr2:190425200-190433800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr2:190425400-190431800	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:190425600-190428200	Genic enhancers	Liver	Liver
50	chr2:190425600-190428800	Genic enhancers	Adipose Nuclei	Adipose

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