Variant report

Variant	rs12078336
Chromosome Location	chr1:160805671-160805672
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:160804559..160806292-chr1:161014093..161016199,2	K562	blood:
2	chr1:160748693..160751200-chr1:160804767..160806895,2	MCF-7	breast:
3	chr1:160804493..160805786-chr1:160920022..160921434,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158773	Chromatin interaction
ENSG00000158764	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10158850	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12061248	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12061252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12067762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12354234	0.97[ASN][1000 genomes]
rs1412848	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16832445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280416	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297560	0.85[JPT][hapmap]
rs34984882	0.97[ASN][1000 genomes]
rs3766381	0.97[ASN][1000 genomes]
rs55653503	0.97[ASN][1000 genomes]
rs55709726	0.97[ASN][1000 genomes]
rs56337978	0.97[ASN][1000 genomes]
rs6696695	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7551159	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv464161	chr1:160747615-160852046	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv548057	chr1:160747615-160852046	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160771000-160806600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:160793000-160811600	Weak transcription	Gastric	stomach
3	chr1:160793400-160807400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:160794000-160805800	Weak transcription	Thymus	Thymus
5	chr1:160794000-160806200	Weak transcription	Spleen	Spleen
6	chr1:160800800-160805800	Weak transcription	GM12878-XiMat	blood
7	chr1:160803000-160807600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr1:160803200-160807600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr1:160803200-160812400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:160803400-160806200	Enhancers	Primary T cells from cord blood	blood
11	chr1:160803400-160807400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:160803600-160806000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:160803600-160810000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:160803800-160806400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:160804000-160806400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr1:160804000-160807600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:160804400-160807600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr1:160804600-160807400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:160804800-160805800	Weak transcription	Dnd41	blood
20	chr1:160804800-160809600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:160805000-160806400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:160805000-160807000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:160805000-160809200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:160805000-160809400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr1:160805200-160806400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr1:160805200-160809000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:160805400-160806000	Weak transcription	Colonic Mucosa	Colon
28	chr1:160805400-160808000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:160805400-160808600	Enhancers	Primary hematopoietic stem cells	blood
30	chr1:160805600-160806400	Genic enhancers	Monocytes-CD14+_RO01746	blood
31	chr1:160805600-160806600	Genic enhancers	Primary monocytes fromperipheralblood	blood
32	chr1:160805600-160807600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr1:160805600-160808000	Enhancers	Fetal Thymus	thymus
34	chr1:160805600-160809000	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr1:160805600-160809000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:160805600-160809200	Enhancers	Primary B cells from cord blood	blood
37	chr1:160805600-160809200	Enhancers	Primary B cells from peripheral blood	blood

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