Variant report

Variant	rs2284212
Chromosome Location	chr7:139695316-139695317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139665628..139667310-chr7:139694629..139696655,2	K562	blood:
2	chr7:139694172..139696537-chr7:139698410..139700449,2	K562	blood:
3	chr7:139686696..139690910-chr7:139691062..139695486,5	K562	blood:
4	chr7:139023856..139025917-chr7:139693377..139696075,2	K562	blood:

Variant related genes	Relation type
ENSG00000164898	Chromatin interaction
ENSG00000146963	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11761051	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs2267704	0.86[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2267705	0.87[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];0.94[MEX][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2267706	0.86[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs2284213	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3779130	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs3801147	0.81[CHB][hapmap]
rs3801148	0.81[JPT][hapmap]
rs7795996	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][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	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv1828807	chr7:139675550-139727974	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139672000-139704400	Weak transcription	Lung	lung
2	chr7:139681000-139717800	Weak transcription	Thymus	Thymus
3	chr7:139689600-139701800	Weak transcription	Fetal Kidney	kidney
4	chr7:139690800-139705600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:139691200-139706000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr7:139691400-139697600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:139692000-139706400	Weak transcription	Spleen	Spleen
8	chr7:139692600-139700800	Weak transcription	Fetal Thymus	thymus
9	chr7:139693000-139695800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr7:139693200-139696800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:139693200-139729000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr7:139693400-139695400	Enhancers	Brain Angular Gyrus	brain
13	chr7:139693400-139697600	Enhancers	Brain Hippocampus Middle	brain
14	chr7:139693400-139697800	Enhancers	Brain Substantia Nigra	brain
15	chr7:139694200-139695400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:139694200-139695400	Enhancers	Brain Cingulate Gyrus	brain
17	chr7:139694200-139695400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr7:139694200-139695400	Enhancers	Fetal Intestine Small	intestine
19	chr7:139694200-139695600	Enhancers	Brain Anterior Caudate	brain
20	chr7:139694200-139695600	Enhancers	Fetal Muscle Leg	muscle
21	chr7:139694200-139695600	Enhancers	NHLF	lung
22	chr7:139694200-139695800	Enhancers	Fetal Stomach	stomach
23	chr7:139694200-139697000	Enhancers	Fetal Lung	lung
24	chr7:139694400-139695400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:139694400-139695400	Enhancers	Brain Germinal Matrix	brain
26	chr7:139694600-139695400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:139694600-139695400	Enhancers	Fetal Muscle Trunk	muscle
28	chr7:139694600-139695400	Enhancers	Ovary	ovary
29	chr7:139694600-139695600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:139694600-139695600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:139694600-139695600	Enhancers	Stomach Smooth Muscle	stomach
32	chr7:139694600-139695600	Enhancers	HSMMtube	muscle
33	chr7:139694600-139695800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr7:139694600-139695800	Enhancers	Fetal Heart	heart
35	chr7:139694600-139696400	Enhancers	Placenta	Placenta
36	chr7:139694800-139695400	Enhancers	K562	blood
37	chr7:139694800-139695800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:139695000-139695400	Enhancers	Esophagus	oesophagus
39	chr7:139695000-139695600	Enhancers	A549	lung
40	chr7:139695000-139695600	Bivalent Enhancer	HepG2	liver
41	chr7:139695000-139695800	Enhancers	Gastric	stomach
42	chr7:139695000-139707400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr7:139695200-139695400	Enhancers	Right Ventricle	heart
44	chr7:139695200-139695600	Enhancers	Osteobl	bone
45	chr7:139695200-139695800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:139695200-139697600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:139695200-139700000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr7:139695200-139721600	Weak transcription	Colonic Mucosa	Colon

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