Variant report

Variant	rs73943410
Chromosome Location	chr2:73330223-73330224
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	chr2:73320586..73325143-chr2:73325606..73330308,7	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17348624	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17348638	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17433172	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17511570	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4143146	0.91[ASN][1000 genomes]
rs55633543	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55768189	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs55854246	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55881165	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55938508	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56026282	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56088054	0.85[ASN][1000 genomes]
rs56132148	0.87[EUR][1000 genomes]
rs56214999	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56280862	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57522927	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57868938	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6706065	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73943014	1.00[AFR][1000 genomes]
rs73943408	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73945731	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73945733	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73945734	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73945735	0.84[AMR][1000 genomes]
rs73945740	0.84[AMR][1000 genomes];0.87[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	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
2	nsv1006801	chr2:73305056-73431711	Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73315600-73330400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:73315600-73338000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:73316200-73330400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:73316200-73338400	Weak transcription	Brain Germinal Matrix	brain
5	chr2:73316400-73334400	Weak transcription	Fetal Brain Female	brain
6	chr2:73316400-73335000	Weak transcription	Brain Substantia Nigra	brain
7	chr2:73318400-73331800	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:73318600-73334400	Weak transcription	HMEC	breast
9	chr2:73320200-73332200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:73320600-73332800	Weak transcription	Esophagus	oesophagus
11	chr2:73320800-73332800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:73320800-73334400	Weak transcription	Aorta	Aorta
13	chr2:73321600-73332800	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:73322400-73334600	Weak transcription	Psoas Muscle	Psoas
15	chr2:73323000-73330400	Weak transcription	Brain Angular Gyrus	brain
16	chr2:73324600-73330400	Weak transcription	Ovary	ovary
17	chr2:73326800-73332000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:73327000-73334400	Strong transcription	Fetal Stomach	stomach
19	chr2:73327000-73338800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:73328200-73330400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:73328200-73332800	Enhancers	Spleen	Spleen
22	chr2:73328600-73330400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:73328600-73330600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:73328600-73330800	Enhancers	NH-A	brain
25	chr2:73328600-73330800	Enhancers	Osteobl	bone
26	chr2:73328800-73330600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:73328800-73330600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:73328800-73330600	Enhancers	Right Ventricle	heart
29	chr2:73328800-73331200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:73328800-73331200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:73328800-73331200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:73328800-73331200	Enhancers	HUVEC	blood vessel
33	chr2:73328800-73331400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:73329000-73330400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:73329000-73330800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:73329000-73331800	Strong transcription	HepG2	liver
37	chr2:73329000-73333000	Weak transcription	NHEK	skin
38	chr2:73329000-73334800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr2:73329200-73330800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr2:73329200-73331000	Enhancers	Fetal Intestine Large	intestine
41	chr2:73329200-73331200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:73329200-73331200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr2:73329400-73330600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:73329400-73331000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr2:73329400-73331200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:73329400-73332200	Weak transcription	NHDF-Ad	bronchial
47	chr2:73329400-73332800	Weak transcription	HSMMtube	muscle
48	chr2:73329400-73338200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:73329600-73330400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:73329600-73330600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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