Variant report

Variant	rs73943017
Chromosome Location	chr2:73216429-73216430
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73210632..73213352-chr2:73216229..73218123,2	K562	blood:
2	chr2:73216397..73218640-chr2:73402829..73404519,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs17348624	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17348638	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17433172	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17504663	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17504810	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17511570	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17570040	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17570432	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55633543	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55768189	0.92[EUR][1000 genomes]
rs55801301	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55854246	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55881165	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55938508	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56026282	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56088054	0.88[EUR][1000 genomes]
rs56161051	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56214999	0.82[AFR][1000 genomes]
rs56280862	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57522927	0.94[EUR][1000 genomes]
rs57666506	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57868938	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6706065	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73943009	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73943014	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73943015	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73943016	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73943034	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73943035	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73943036	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73943408	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73945731	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73945733	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73945734	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73945735	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73945740	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[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	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv874266	chr2:73137991-73220138	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr2:73168800-73226800	Weak transcription	NHLF	lung
2	chr2:73176600-73227400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:73183200-73228200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:73190600-73234400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:73193600-73221200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:73194200-73248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:73198600-73220000	Weak transcription	Small Intestine	intestine
8	chr2:73203200-73218400	Weak transcription	Brain Germinal Matrix	brain
9	chr2:73207800-73263200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:73208000-73247600	Weak transcription	Primary B cells from cord blood	blood
11	chr2:73208200-73217000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:73208200-73218000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:73208200-73227000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:73208400-73217200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:73208400-73227400	Weak transcription	A549	lung
16	chr2:73208400-73227600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:73208600-73217200	Weak transcription	NHEK	skin
18	chr2:73208600-73217800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:73208600-73227200	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:73209000-73227000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:73209000-73227200	Weak transcription	HSMM	muscle
22	chr2:73209400-73218800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:73209400-73219200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr2:73209600-73217000	Weak transcription	HMEC	breast
25	chr2:73209600-73217200	Strong transcription	Stomach Smooth Muscle	stomach
26	chr2:73209600-73217600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:73209600-73219600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr2:73210000-73217400	Strong transcription	Fetal Stomach	stomach
29	chr2:73210200-73217000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:73210400-73227200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:73210600-73225400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:73210800-73217000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:73211000-73217800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:73211000-73258400	Weak transcription	Colonic Mucosa	Colon
35	chr2:73211600-73221800	Weak transcription	Fetal Brain Male	brain
36	chr2:73211600-73235800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr2:73212000-73223000	Weak transcription	Brain Angular Gyrus	brain
38	chr2:73212000-73225400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:73212200-73247400	Weak transcription	HSMMtube	muscle
40	chr2:73212400-73217000	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:73212400-73227400	Weak transcription	Adipose Nuclei	Adipose
42	chr2:73212400-73236000	Weak transcription	Esophagus	oesophagus
43	chr2:73212800-73238800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:73213200-73216800	Strong transcription	Primary T cells from cord blood	blood
45	chr2:73213800-73216800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:73213800-73219800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr2:73213800-73220400	Weak transcription	K562	blood
48	chr2:73213800-73221800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:73213800-73222600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:73213800-73227400	Weak transcription	Gastric	stomach

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