Variant report

Variant	rs716703
Chromosome Location	chr1:147021148-147021149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:147019962..147021881-chr1:147028732..147030499,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11240079	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12069005	0.85[EUR][1000 genomes]
rs12072533	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12075087	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17160340	0.82[EUR][1000 genomes]
rs1989733	0.85[EUR][1000 genomes]
rs57710974	0.85[EUR][1000 genomes]
rs58718844	0.85[EUR][1000 genomes]
rs59594924	0.85[EUR][1000 genomes]
rs74125727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7526630	0.82[EUR][1000 genomes]
rs7526706	0.85[EUR][1000 genomes]
rs7535258	1.00[CEU][hapmap]
rs7554146	1.00[CEU][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
3	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
4	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
6	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
7	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
8	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
9	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
10	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
11	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv1012331	chr1:146603479-147384720	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
15	nsv535131	chr1:146603479-147384720	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
16	nsv1004849	chr1:146661516-147286826	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
17	nsv535135	chr1:146661516-147286826	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
18	nsv534063	chr1:146807433-147381411	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
19	nsv831414	chr1:146884994-147083866	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv1001868	chr1:146893791-147389944	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
21	nsv482606	chr1:146959127-147134517	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
22	nsv946308	chr1:147013512-147039086	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv872266	chr1:147020099-147381558	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
24	esv1802622	chr1:147021148-147033650	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:147015000-147021800	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:147015200-147032200	Weak transcription	Brain Angular Gyrus	brain
3	chr1:147016200-147021600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:147016200-147023000	Weak transcription	Right Atrium	heart
5	chr1:147016400-147027000	Weak transcription	Fetal Stomach	stomach
6	chr1:147017200-147022600	Weak transcription	Stomach Mucosa	stomach
7	chr1:147017200-147023600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:147017200-147030200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:147017200-147051200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:147017400-147021400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:147017400-147021400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:147017400-147039600	Weak transcription	Fetal Intestine Large	intestine
13	chr1:147017600-147021200	Weak transcription	Fetal Kidney	kidney
14	chr1:147017600-147022000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr1:147017600-147022800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:147017600-147030200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:147017600-147031600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:147017600-147038600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:147017800-147021800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:147017800-147021800	Weak transcription	Thymus	Thymus
21	chr1:147018400-147021200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:147018600-147022400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:147018800-147029800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:147018800-147031000	Weak transcription	Primary T cells from cord blood	blood
25	chr1:147019000-147021200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:147019000-147024600	Weak transcription	Brain Germinal Matrix	brain
27	chr1:147019200-147028600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:147020000-147021600	Enhancers	Left Ventricle	heart
29	chr1:147020200-147021200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:147020200-147021600	Enhancers	Primary T cells fromperipheralblood	blood
31	chr1:147020200-147023000	Weak transcription	Aorta	Aorta
32	chr1:147020200-147030400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:147020400-147021200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:147020400-147021400	Weak transcription	Fetal Heart	heart
35	chr1:147020400-147021400	Weak transcription	Fetal Lung	lung
36	chr1:147020400-147021400	Weak transcription	Ovary	ovary
37	chr1:147020400-147021800	Weak transcription	Pancreas	Pancrea
38	chr1:147020400-147023000	Weak transcription	Psoas Muscle	Psoas
39	chr1:147020400-147023000	Weak transcription	Right Ventricle	heart
40	chr1:147020400-147023400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:147020400-147028600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr1:147020800-147021600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr1:147020800-147022000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:147021000-147021600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr1:147021000-147022000	Enhancers	Primary T helper cells fromperipheralblood	blood

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