Variant report

Variant	rs73973173
Chromosome Location	chr2:179730268-179730269
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	chr2:179726925..179728501-chr2:179728978..179731077,2	K562	blood:

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

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

rs_ID	r²[population]
rs11690299	0.83[ASN][1000 genomes]
rs12619308	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1873163	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55807016	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60105920	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6752756	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6755035	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73973171	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73973181	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7564036	0.82[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	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179695800-179738400	Weak transcription	Fetal Intestine Large	intestine
2	chr2:179702200-179749200	Weak transcription	Thymus	Thymus
3	chr2:179710800-179782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:179713400-179778600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:179717000-179790600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:179724200-179730400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:179724600-179733400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:179724800-179732800	Weak transcription	Brain Angular Gyrus	brain
9	chr2:179726200-179730400	Weak transcription	Fetal Brain Male	brain
10	chr2:179726400-179733400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:179727800-179730600	Enhancers	HUVEC	blood vessel
12	chr2:179727800-179730800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:179727800-179730800	Enhancers	NHDF-Ad	bronchial
14	chr2:179727800-179731200	Strong transcription	Primary T cells from cord blood	blood
15	chr2:179728000-179730400	Enhancers	Brain Germinal Matrix	brain
16	chr2:179728000-179730600	Enhancers	NH-A	brain
17	chr2:179728200-179753800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:179728400-179730400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:179728400-179730600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:179728400-179730600	Enhancers	Hela-S3	cervix
21	chr2:179728400-179731000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:179728600-179730600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:179728600-179730600	Enhancers	Fetal Stomach	stomach
24	chr2:179728600-179730800	Enhancers	Ovary	ovary
25	chr2:179728800-179730600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:179728800-179730600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr2:179728800-179730600	Enhancers	Osteobl	bone
28	chr2:179728800-179730800	Strong transcription	Primary B cells from cord blood	blood
29	chr2:179728800-179731200	Weak transcription	GM12878-XiMat	blood
30	chr2:179728800-179739600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr2:179729000-179730400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:179729000-179730800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:179729200-179730600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:179729200-179730600	Enhancers	Lung	lung
35	chr2:179729200-179730600	Enhancers	Right Atrium	heart
36	chr2:179729200-179730600	Enhancers	HSMM	muscle
37	chr2:179729200-179730800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr2:179729200-179733200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:179729200-179749000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:179729400-179730400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr2:179729400-179730400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:179729400-179730400	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:179729400-179730400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:179729400-179730600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:179729400-179730600	Enhancers	HMEC	breast
46	chr2:179729400-179730600	Enhancers	NHLF	lung
47	chr2:179729400-179731400	Enhancers	Fetal Muscle Leg	muscle
48	chr2:179729400-179733600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:179729400-179734600	Weak transcription	Right Ventricle	heart
50	chr2:179729400-179753600	Weak transcription	H9 Cell Line	embryonic stem cell

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