Variant report

Variant	rs10174599
Chromosome Location	chr2:9796972-9796973
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9769776..9771505-chr2:9795001..9797519,2	K562	blood:
2	chr2:9786319..9789288-chr2:9795169..9797264,3	K562	blood:
3	chr2:9782654..9789334-chr2:9794560..9799702,7	MCF-7	breast:
4	chr2:9796534..9798886-chr2:9908745..9911045,3	K562	blood:

Variant related genes	Relation type
ENSG00000243491	Chromatin interaction
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10189576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57237204	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6432028	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712680	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556941	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576067	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602793	1.00[ASN][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	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1011802	chr2:9766171-9808284	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9789400-9797600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:9790800-9797400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:9790800-9799200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:9790800-9801000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:9792800-9801600	Weak transcription	Spleen	Spleen
6	chr2:9794200-9797200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:9794200-9799400	Enhancers	HMEC	breast
8	chr2:9794400-9797600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr2:9794400-9797600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:9794400-9797600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:9794400-9797600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr2:9794400-9797600	Enhancers	NHEK	skin
13	chr2:9794400-9798000	Enhancers	NHLF	lung
14	chr2:9794400-9799600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:9794400-9800400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:9794600-9798400	Enhancers	NHDF-Ad	bronchial
17	chr2:9794600-9799600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:9794800-9797000	Weak transcription	Ovary	ovary
19	chr2:9794800-9797400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:9794800-9797800	Enhancers	HUVEC	blood vessel
21	chr2:9794800-9799000	Weak transcription	Placenta	Placenta
22	chr2:9794800-9800400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:9795000-9797400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr2:9795000-9798000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:9795000-9798600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:9795000-9799200	Enhancers	Osteobl	bone
27	chr2:9795200-9798000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:9795400-9797000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr2:9795400-9797000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:9795400-9797200	Bivalent Enhancer	HepG2	liver
31	chr2:9795400-9798000	Flanking Active TSS	A549	lung
32	chr2:9795400-9798200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:9795400-9798200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:9795400-9799200	Enhancers	HSMM	muscle
35	chr2:9795600-9797200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:9795600-9797200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:9795600-9799200	Enhancers	HSMMtube	muscle
38	chr2:9795800-9797200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr2:9795800-9797200	Enhancers	Brain Cingulate Gyrus	brain
40	chr2:9796200-9798200	Enhancers	Hela-S3	cervix
41	chr2:9796200-9798400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr2:9796400-9797200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:9796600-9797000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:9796600-9797000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:9796600-9797000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:9796600-9797000	Flanking Active TSS	GM12878-XiMat	blood
47	chr2:9796600-9797400	Enhancers	Brain Hippocampus Middle	brain
48	chr2:9796600-9797600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:9796600-9797800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:9796600-9798000	Enhancers	NH-A	brain

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