Variant report

Variant	rs2392640
Chromosome Location	chr7:105510280-105510281
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:105508618..105511146-chr7:105522403..105524816,2	K562	blood:
2	chr7:105500053..105503749-chr7:105509417..105511445,3	MCF-7	breast:
3	chr7:105506358..105508649-chr7:105509377..105511928,3	MCF-7	breast:
4	chr7:105509564..105513213-chr7:105514359..105518751,5	MCF-7	breast:
5	chr7:105500508..105505322-chr7:105509824..105513208,4	K562	blood:
6	chr7:105171304..105173778-chr7:105510120..105512763,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146776	Chromatin interaction
ENSG00000135249	Chromatin interaction
ENSG00000128536	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10229490	1.00[EUR][1000 genomes]
rs11982858	1.00[EUR][1000 genomes]
rs2392641	1.00[EUR][1000 genomes]
rs57826286	1.00[EUR][1000 genomes]
rs73717289	1.00[EUR][1000 genomes]
rs73718051	1.00[EUR][1000 genomes]
rs73718054	1.00[EUR][1000 genomes]
rs7809133	1.00[EUR][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	nsv1027213	chr7:105438610-106022869	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS 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	54 gene(s)	inside rSNPs	diseases
2	nsv464669	chr7:105504201-105533735	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv608070	chr7:105504201-105533735	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105480000-105515600	Weak transcription	Ovary	ovary
2	chr7:105488000-105515600	Weak transcription	Aorta	Aorta
3	chr7:105490200-105515600	Weak transcription	Gastric	stomach
4	chr7:105490200-105516200	Weak transcription	Thymus	Thymus
5	chr7:105491000-105511600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:105491600-105511600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:105491600-105515200	Weak transcription	Spleen	Spleen
8	chr7:105491800-105515400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:105492800-105515800	Weak transcription	A549	lung
10	chr7:105493200-105516400	Weak transcription	Lung	lung
11	chr7:105494600-105514000	Weak transcription	Placenta	Placenta
12	chr7:105494800-105515600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:105495000-105514800	Weak transcription	Brain Germinal Matrix	brain
14	chr7:105495000-105515200	Weak transcription	Right Atrium	heart
15	chr7:105495000-105515600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:105495200-105511400	Weak transcription	HUVEC	blood vessel
17	chr7:105495200-105512800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:105495200-105513000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:105495200-105515000	Weak transcription	Fetal Brain Male	brain
20	chr7:105495200-105515200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:105495200-105515400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:105495200-105515400	Weak transcription	Brain Angular Gyrus	brain
23	chr7:105495200-105515400	Weak transcription	Brain Anterior Caudate	brain
24	chr7:105495200-105515400	Weak transcription	Fetal Kidney	kidney
25	chr7:105495200-105515400	Weak transcription	Fetal Lung	lung
26	chr7:105495200-105515600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:105495200-105515600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:105495400-105515200	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:105495600-105513000	Weak transcription	NHLF	lung
30	chr7:105496000-105515000	Weak transcription	NHDF-Ad	bronchial
31	chr7:105498000-105515600	Weak transcription	Colonic Mucosa	Colon
32	chr7:105498800-105513800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:105499000-105513600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:105499000-105515800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:105499200-105513800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr7:105499200-105515400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:105499600-105514800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr7:105500800-105514800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:105501800-105511600	Weak transcription	HepG2	liver
40	chr7:105502600-105511000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:105502600-105515600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:105503400-105515600	Weak transcription	Left Ventricle	heart
43	chr7:105503800-105510600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:105504000-105511200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr7:105504000-105516000	Weak transcription	HSMMtube	muscle
46	chr7:105504200-105511200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr7:105504200-105515200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:105504200-105515600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:105504400-105514800	Weak transcription	Stomach Mucosa	stomach
50	chr7:105504400-105515200	Weak transcription	Brain Inferior Temporal Lobe	brain

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