Variant report

Variant	rs12075111
Chromosome Location	chr1:246810698-246810699
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	chr1:246810150..246810952-chr1:246916713..246917868,5	MCF-7	breast:
2	chr1:246809490..246812170-chr1:246921388..246923239,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11585481	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap]
rs12037377	1.00[MEX][hapmap]
rs12077053	0.94[AFR][1000 genomes]
rs12077604	0.88[AFR][1000 genomes]
rs12091148	0.94[AFR][1000 genomes]
rs12092872	1.00[AFR][1000 genomes]
rs14373	1.00[CHD][hapmap]
rs3007403	0.85[AFR][1000 genomes]
rs3795468	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004119	chr1:245957145-246813150	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv535389	chr1:245957145-246813150	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1014529	chr1:245957145-246817877	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv868852	chr1:245969229-246811220	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv948348	chr1:246090818-246853200	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1013800	chr1:246472691-246840960	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv535409	chr1:246472691-246840960	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	esv2762191	chr1:246546436-246815064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv1002805	chr1:246608164-246890518	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv535413	chr1:246608164-246890518	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv1010453	chr1:246645797-246815052	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv998579	chr1:246666041-246817877	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv1010316	chr1:246686301-246840960	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv535414	chr1:246686301-246840960	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
16	nsv528615	chr1:246708467-246843315	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
17	nsv1014280	chr1:246709243-246823255	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv1005214	chr1:246730885-246841107	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	nsv1002595	chr1:246774036-246846548	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
20	nsv869936	chr1:246778181-246811161	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246755400-246832800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:246780800-246813400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:246782400-246810800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:246784200-246833800	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:246789200-246839200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:246795600-246813600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:246796000-246831200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:246796200-246822000	Weak transcription	Brain Substantia Nigra	brain
9	chr1:246799800-246810800	Strong transcription	K562	blood
10	chr1:246801000-246826400	Weak transcription	HMEC	breast
11	chr1:246801000-246829000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:246801600-246842800	Weak transcription	Fetal Kidney	kidney
13	chr1:246801800-246817200	Weak transcription	A549	lung
14	chr1:246802000-246814600	Weak transcription	Fetal Brain Female	brain
15	chr1:246803400-246817200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:246803400-246822000	Weak transcription	Psoas Muscle	Psoas
17	chr1:246804200-246833400	Strong transcription	Liver	Liver
18	chr1:246804400-246813000	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:246804600-246833800	Strong transcription	Primary T cells from cord blood	blood
20	chr1:246804800-246834200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:246805000-246812800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:246805200-246813400	Strong transcription	Fetal Thymus	thymus
23	chr1:246805200-246816000	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr1:246805200-246819400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:246805200-246825200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:246805400-246811600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:246805400-246814000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr1:246805400-246837600	Weak transcription	Small Intestine	intestine
29	chr1:246805800-246811400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:246805800-246812800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:246805800-246813400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:246806000-246810800	Strong transcription	Osteobl	bone
33	chr1:246806200-246810800	Strong transcription	Fetal Intestine Small	intestine
34	chr1:246807000-246810800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:246807200-246820600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr1:246808200-246810800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:246808200-246817400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:246808400-246817000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:246808600-246810800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:246809000-246812000	Strong transcription	GM12878-XiMat	blood
41	chr1:246809600-246813400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr1:246809600-246818400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr1:246809800-246814200	Strong transcription	Primary B cells from peripheral blood	blood
44	chr1:246810000-246811400	Strong transcription	Fetal Stomach	stomach
45	chr1:246810200-246811000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr1:246810200-246811000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr1:246810200-246811200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:246810200-246811400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr1:246810200-246811400	Strong transcription	Thymus	Thymus
50	chr1:246810200-246811600	Strong transcription	HepG2	liver

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