Variant report

Variant	rs2190450
Chromosome Location	chr7:105452284-105452285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:105451181..105452980-chr7:105457159..105460152,2	K562	blood:

Variant related genes	Relation type
ENSG00000226624	Chromatin interaction

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

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

rs_ID	r²[population]
rs12531210	0.92[EUR][1000 genomes]
rs12535473	0.89[AMR][1000 genomes]
rs2158897	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2392708	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58244737	0.92[EUR][1000 genomes]
rs6953952	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6967440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786721	1.00[AFR][1000 genomes]
rs9691488	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105430200-105479200	Weak transcription	Aorta	Aorta
2	chr7:105441200-105457200	Weak transcription	Fetal Lung	lung
3	chr7:105446000-105452600	Enhancers	Primary T cells fromperipheralblood	blood
4	chr7:105446400-105471200	Weak transcription	Lung	lung
5	chr7:105446800-105456000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:105446800-105457200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:105446800-105470000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:105446800-105470200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:105446800-105471200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:105447000-105470000	Weak transcription	Ovary	ovary
11	chr7:105447200-105454200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:105447200-105457000	Weak transcription	Gastric	stomach
13	chr7:105447200-105470200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:105447600-105453200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr7:105447600-105455800	Weak transcription	Brain Hippocampus Middle	brain
16	chr7:105447600-105470000	Weak transcription	NH-A	brain
17	chr7:105447800-105457000	Weak transcription	Spleen	Spleen
18	chr7:105447800-105470600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:105448000-105454600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:105448000-105455800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:105448000-105460000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:105448200-105460800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:105448400-105452600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:105448600-105465000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:105448800-105463200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr7:105448800-105470400	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:105449000-105479200	Weak transcription	Esophagus	oesophagus
28	chr7:105449600-105458000	Weak transcription	Fetal Thymus	thymus
29	chr7:105450000-105452400	Weak transcription	A549	lung
30	chr7:105450000-105454600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:105450200-105456000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:105450200-105456400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:105450200-105456400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:105450200-105466400	Weak transcription	NHLF	lung
35	chr7:105450400-105454200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr7:105450400-105455600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:105450400-105457400	Weak transcription	Primary T cells from cord blood	blood
38	chr7:105450400-105460000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:105450400-105470200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:105450600-105453600	Enhancers	Colon Smooth Muscle	Colon
41	chr7:105450600-105454400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr7:105450800-105457000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:105450800-105459000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:105450800-105463200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr7:105450800-105470200	Weak transcription	NHEK	skin
46	chr7:105451000-105453400	Enhancers	Rectal Smooth Muscle	rectum
47	chr7:105451200-105452400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr7:105451200-105453200	Enhancers	HepG2	liver
49	chr7:105451200-105462600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr7:105451400-105452400	Enhancers	Fetal Intestine Large	intestine

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