Variant report

Variant	rs17160059
Chromosome Location	chr1:146728752-146728753
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:146727066..146728772-chr1:146732769..146735404,2	K562	blood:
2	chr1:146727066..146728885-chr1:146732769..146735404,3	K562	blood:
3	chr1:146713040..146715034-chr1:146728003..146729847,2	MCF-7	breast:
4	chr1:146728735..146731068-chr1:146731372..146734361,2	MCF-7	breast:
5	chr1:146639513..146641119-chr1:146727207..146729004,2	MCF-7	breast:
6	chr1:146728074..146729686-chr1:146737921..146739510,2	K562	blood:

Variant related genes	Relation type
ENSG00000131781	Chromatin interaction
ENSG00000131778	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11239954	0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs11239958	0.88[AFR][1000 genomes]
rs11239961	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs11800580	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs11802302	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12060046	0.85[AFR][1000 genomes]
rs12064458	0.88[AFR][1000 genomes]
rs12066130	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs12070617	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs12078046	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs17160050	0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs17160051	0.85[YRI][hapmap];0.88[AFR][1000 genomes]
rs28381161	1.00[EUR][1000 genomes]
rs28381167	1.00[EUR][1000 genomes]
rs28381185	0.86[EUR][1000 genomes]
rs28381199	0.86[EUR][1000 genomes]
rs28381202	0.86[EUR][1000 genomes]
rs28381214	0.86[EUR][1000 genomes]
rs28381217	0.86[EUR][1000 genomes]
rs41295823	1.00[EUR][1000 genomes]
rs72691016	0.88[AFR][1000 genomes]
rs72691025	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872251	chr1:146152553-146803630	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv872255	chr1:146550780-146969712	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS 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	93 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	nsv1009943	chr1:146618929-146893851	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
19	nsv535132	chr1:146618929-146893851	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
20	nsv437047	chr1:146643555-146841602	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
21	nsv1005809	chr1:146647822-146886419	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
22	nsv535134	chr1:146647822-146886419	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
23	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
24	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
25	nsv547676	chr1:146686228-146996047	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146715600-146736200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:146715600-146749400	Weak transcription	Colonic Mucosa	Colon
3	chr1:146715800-146731400	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:146715800-146756800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:146716000-146731600	Weak transcription	Fetal Kidney	kidney
6	chr1:146716000-146731800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:146716000-146732400	Weak transcription	Aorta	Aorta
8	chr1:146716000-146732400	Weak transcription	Fetal Brain Male	brain
9	chr1:146716000-146735600	Weak transcription	Ovary	ovary
10	chr1:146716000-146739600	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:146716000-146743800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:146716200-146732200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:146716400-146732200	Weak transcription	NHLF	lung
14	chr1:146716600-146731400	Weak transcription	Fetal Brain Female	brain
15	chr1:146716800-146731000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:146716800-146748600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:146717200-146751000	Weak transcription	Gastric	stomach
18	chr1:146717600-146730200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:146717600-146736600	Weak transcription	Psoas Muscle	Psoas
20	chr1:146717800-146732800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:146719200-146730000	Weak transcription	HMEC	breast
22	chr1:146719200-146730800	Weak transcription	HSMM	muscle
23	chr1:146719200-146731400	Weak transcription	Right Ventricle	heart
24	chr1:146719400-146731000	Weak transcription	Brain Substantia Nigra	brain
25	chr1:146719400-146731800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:146719400-146736400	Weak transcription	Brain Angular Gyrus	brain
27	chr1:146719400-146757600	Weak transcription	Stomach Mucosa	stomach
28	chr1:146719600-146731600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:146719600-146736200	Weak transcription	Spleen	Spleen
30	chr1:146719600-146747600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:146719600-146747800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:146719600-146748000	Weak transcription	Small Intestine	intestine
33	chr1:146719800-146729600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:146719800-146729800	Weak transcription	Brain Anterior Caudate	brain
35	chr1:146719800-146731400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:146719800-146731800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:146719800-146732000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:146719800-146732600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:146719800-146732800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:146722200-146740200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr1:146722400-146731400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:146722400-146731800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr1:146722400-146740200	Weak transcription	Pancreas	Pancrea
44	chr1:146722600-146732400	Weak transcription	Lung	lung
45	chr1:146722600-146749400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:146722800-146769800	Strong transcription	Dnd41	blood
47	chr1:146723600-146730600	Strong transcription	Primary B cells from cord blood	blood
48	chr1:146723800-146732400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:146723800-146733600	Strong transcription	Hela-S3	cervix
50	chr1:146723800-146761200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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