Variant report

Variant	rs4135068
Chromosome Location	chr12:104366673-104366674
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104364267..104367088-chr12:104376743..104378838,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10507172	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs10507173	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs10861124	0.81[JPT][hapmap]
rs10861147	0.86[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs10861148	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs10861153	1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs11111858	1.00[CHB][hapmap];0.84[JPT][hapmap];0.95[ASN][1000 genomes]
rs11111862	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11111863	0.94[ASN][1000 genomes]
rs11111865	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs11111866	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1165678	0.83[JPT][hapmap]
rs1183212	0.83[JPT][hapmap]
rs12368121	0.83[JPT][hapmap]
rs1437502	0.86[ASN][1000 genomes]
rs17035144	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2164747	1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs2293620	1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs2293624	1.00[CHB][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs3751210	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3817602	1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs3829301	1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs4135052	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4135054	1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs4135079	1.00[CHB][hapmap];0.85[JPT][hapmap];0.98[ASN][1000 genomes]
rs4135102	1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs4135103	0.93[ASN][1000 genomes]
rs4135109	1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs4135113	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs4135115	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs4135126	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs57179875	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60033863	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60696717	0.88[ASN][1000 genomes]
rs61069788	0.86[ASN][1000 genomes]
rs61646543	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7137924	0.83[ASN][1000 genomes]
rs7295650	0.83[ASN][1000 genomes]
rs7302074	0.83[JPT][hapmap]
rs7305770	0.83[ASN][1000 genomes]
rs7310423	0.90[ASN][1000 genomes]
rs73388292	0.93[ASN][1000 genomes]
rs73390443	0.83[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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv3359723	chr12:104359646-104370785	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104360400-104368000	Weak transcription	Pancreas	Pancrea
2	chr12:104360800-104366800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:104360800-104368000	Weak transcription	Lung	lung
4	chr12:104360800-104371200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:104360800-104371200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:104360800-104371200	Weak transcription	Colonic Mucosa	Colon
7	chr12:104360800-104371800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:104360800-104378600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:104360800-104381000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:104361000-104367000	Weak transcription	Fetal Intestine Large	intestine
11	chr12:104361000-104368800	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:104361000-104370800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:104361000-104371000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:104361000-104371000	Weak transcription	Fetal Kidney	kidney
15	chr12:104361000-104372000	Weak transcription	Stomach Mucosa	stomach
16	chr12:104361200-104366800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:104361200-104367000	Weak transcription	Fetal Stomach	stomach
18	chr12:104361200-104367400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:104361200-104369400	Weak transcription	Right Atrium	heart
20	chr12:104361200-104370400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:104361200-104370800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:104361200-104370800	Weak transcription	Fetal Lung	lung
23	chr12:104361200-104371000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:104361200-104371000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:104361200-104379400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:104361600-104385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:104361800-104371200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:104362000-104367800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:104362000-104369400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:104362000-104373800	Weak transcription	Psoas Muscle	Psoas
31	chr12:104362000-104382600	Weak transcription	Esophagus	oesophagus
32	chr12:104362000-104384400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:104362000-104392800	Weak transcription	Fetal Brain Male	brain
34	chr12:104362200-104370800	Weak transcription	Adipose Nuclei	Adipose
35	chr12:104362200-104371200	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:104362200-104384800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:104362400-104367000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:104362400-104367000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr12:104362400-104369200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:104362400-104371000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:104362400-104371000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:104362400-104371200	Weak transcription	Brain Germinal Matrix	brain
43	chr12:104362400-104371400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:104362400-104378000	Weak transcription	Small Intestine	intestine
45	chr12:104362600-104367000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:104362600-104371000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:104362600-104371000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:104363200-104367200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:104363200-104370200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:104363200-104371000	Weak transcription	H1 Cell Line	embryonic stem cell

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