Variant report

Variant	rs12070617
Chromosome Location	chr1:146754008-146754009
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:146749992..146752586-chr1:146753605..146755540,2	K562	blood:
2	chr1:146746583..146748653-chr1:146752642..146755229,2	MCF-7	breast:
3	chr1:146751820..146755719-chr1:146756537..146760852,5	K562	blood:
4	chr1:146753383..146755303-chr1:146758053..146759646,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11239934	1.00[MEX][hapmap]
rs11239936	1.00[MEX][hapmap]
rs11239954	0.85[LWK][hapmap]
rs11239961	0.86[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11239962	1.00[MEX][hapmap]
rs11240032	1.00[MEX][hapmap]
rs11800580	0.93[LWK][hapmap];0.86[YRI][hapmap]
rs11802302	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12064458	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12066130	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12070655	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12078046	0.82[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17160059	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs7521249	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:26 , 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
26	esv2761654	chr1:146750270-146809156	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146715800-146756800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:146719400-146757600	Weak transcription	Stomach Mucosa	stomach
3	chr1:146722800-146769800	Strong transcription	Dnd41	blood
4	chr1:146723800-146761200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:146723800-146763200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:146724200-146769800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:146726600-146769600	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:146727000-146770000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:146727200-146754200	Strong transcription	Fetal Intestine Large	intestine
10	chr1:146727200-146762200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:146727200-146767800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:146727200-146770200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr1:146727400-146767800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:146727400-146767800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:146728200-146770800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:146729400-146769800	Strong transcription	Primary T cells from cord blood	blood
17	chr1:146730200-146755800	Weak transcription	Fetal Heart	heart
18	chr1:146733000-146770600	Strong transcription	HepG2	liver
19	chr1:146733200-146762600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:146733600-146763000	Strong transcription	Primary B cells from cord blood	blood
21	chr1:146735600-146768600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:146735800-146769000	Strong transcription	Fetal Thymus	thymus
23	chr1:146736400-146770200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr1:146740800-146757000	Weak transcription	Brain Germinal Matrix	brain
25	chr1:146741000-146764800	Weak transcription	Fetal Brain Male	brain
26	chr1:146742400-146767800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:146742600-146754400	Strong transcription	Fetal Muscle Leg	muscle
28	chr1:146745200-146769400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr1:146745600-146759200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:146745600-146764200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:146745600-146766400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:146745600-146768200	Strong transcription	K562	blood
33	chr1:146745800-146766200	Strong transcription	A549	lung
34	chr1:146746000-146754200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:146746000-146754600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:146746000-146756800	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:146746000-146761800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:146746000-146763400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:146746000-146769400	Strong transcription	Hela-S3	cervix
40	chr1:146746200-146754200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:146746200-146754200	Strong transcription	Brain Hippocampus Middle	brain
42	chr1:146746200-146754200	Strong transcription	Fetal Stomach	stomach
43	chr1:146746200-146758000	Strong transcription	Liver	Liver
44	chr1:146746200-146770000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr1:146746200-146770000	Strong transcription	Brain Anterior Caudate	brain
46	chr1:146746400-146758000	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:146746400-146769400	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr1:146746400-146770000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr1:146746600-146754200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:146746600-146754200	Strong transcription	Lung	lung

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