Variant report

Variant	rs4135047
Chromosome Location	chr12:104362132-104362133
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:104361756-104362541	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:104362110-104362532	GM12878	blood:	n/a	n/a
3	STAT3	chr12:104362118-104362283	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr12:104361933-104362388	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:104362123-104362143	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104319225..104328292-chr12:104356282..104362179,14	K562	blood:
2	chr12:104359553..104362361-chr12:104443780..104446717,2	K562	blood:
3	chr12:104360101..104362239-chr12:104530545..104532165,2	MCF-7	breast:
4	chr12:104323078..104325496-chr12:104361053..104362555,2	MCF-7	breast:
5	chr12:104323420..104325747-chr12:104361567..104364932,4	MCF-7	breast:
6	chr12:104361070..104362835-chr12:104394971..104397683,2	MCF-7	breast:
7	chr12:104359459..104362433-chr12:104679529..104682592,4	K562	blood:

No data

Variant related genes	Relation type
C12orf73	TF binding region
ENSG00000198431	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000120820	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000214198	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11111861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1125322	1.00[ASN][1000 genomes]
rs11611650	1.00[ASN][1000 genomes]
rs1165672	1.00[ASN][1000 genomes]
rs12825687	1.00[ASN][1000 genomes]
rs1385663	1.00[ASN][1000 genomes]
rs167715	1.00[ASN][1000 genomes]
rs167716	1.00[ASN][1000 genomes]
rs1882018	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243680	1.00[ASN][1000 genomes]
rs2248995	1.00[ASN][1000 genomes]
rs2251215	1.00[ASN][1000 genomes]
rs2252213	1.00[ASN][1000 genomes]
rs2374327	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2439621	1.00[ASN][1000 genomes]
rs2576943	1.00[ASN][1000 genomes]
rs2583224	1.00[ASN][1000 genomes]
rs2583225	1.00[ASN][1000 genomes]
rs2583233	1.00[ASN][1000 genomes]
rs2583234	1.00[ASN][1000 genomes]
rs2583237	1.00[ASN][1000 genomes]
rs2583244	1.00[ASN][1000 genomes]
rs2583258	1.00[ASN][1000 genomes]
rs2583274	1.00[ASN][1000 genomes]
rs2583278	1.00[ASN][1000 genomes]
rs2629750	1.00[ASN][1000 genomes]
rs2700494	1.00[ASN][1000 genomes]
rs2700507	1.00[ASN][1000 genomes]
rs2700517	1.00[ASN][1000 genomes]
rs2722177	1.00[ASN][1000 genomes]
rs2722180	1.00[ASN][1000 genomes]
rs2722194	1.00[ASN][1000 genomes]
rs2723849	1.00[ASN][1000 genomes]
rs2723850	1.00[ASN][1000 genomes]
rs2723853	1.00[ASN][1000 genomes]
rs322104	1.00[ASN][1000 genomes]
rs322109	1.00[ASN][1000 genomes]
rs35140616	1.00[ASN][1000 genomes]
rs4135039	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4135040	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4135048	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4135050	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4135059	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4135061	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4135062	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4135066	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs784084	1.00[ASN][1000 genomes]
rs931306	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	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	chr12:104358600-104363600	Active TSS	Right Ventricle	heart
2	chr12:104360400-104363200	Weak transcription	Gastric	stomach
3	chr12:104360400-104368000	Weak transcription	Pancreas	Pancrea
4	chr12:104360600-104362200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:104360600-104362600	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr12:104360800-104362200	Weak transcription	Ovary	ovary
7	chr12:104360800-104362400	Weak transcription	Aorta	Aorta
8	chr12:104360800-104362400	Enhancers	Brain Germinal Matrix	brain
9	chr12:104360800-104363800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr12:104360800-104363800	Enhancers	Liver	Liver
11	chr12:104360800-104366800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:104360800-104368000	Weak transcription	Lung	lung
13	chr12:104360800-104371200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:104360800-104371200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:104360800-104371200	Weak transcription	Colonic Mucosa	Colon
16	chr12:104360800-104371800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:104360800-104378600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:104360800-104381000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:104361000-104362200	Enhancers	Adipose Nuclei	Adipose
20	chr12:104361000-104362200	Enhancers	Colon Smooth Muscle	Colon
21	chr12:104361000-104362400	Enhancers	Brain Cingulate Gyrus	brain
22	chr12:104361000-104362400	Enhancers	Duodenum Mucosa	Duodenum
23	chr12:104361000-104362400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr12:104361000-104362400	Enhancers	Small Intestine	intestine
25	chr12:104361000-104362600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:104361000-104363000	Weak transcription	Brain Substantia Nigra	brain
27	chr12:104361000-104363200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:104361000-104363400	Enhancers	Fetal Heart	heart
29	chr12:104361000-104363600	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr12:104361000-104363600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr12:104361000-104364200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr12:104361000-104365600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:104361000-104365800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr12:104361000-104367000	Weak transcription	Fetal Intestine Large	intestine
35	chr12:104361000-104368800	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:104361000-104370800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:104361000-104371000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:104361000-104371000	Weak transcription	Fetal Kidney	kidney
39	chr12:104361000-104372000	Weak transcription	Stomach Mucosa	stomach
40	chr12:104361200-104362200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:104361200-104362200	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr12:104361200-104362200	Enhancers	HepG2	liver
43	chr12:104361200-104362200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr12:104361200-104362400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:104361200-104362400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:104361200-104362400	Enhancers	Brain Anterior Caudate	brain
47	chr12:104361200-104362400	Weak transcription	Osteobl	bone
48	chr12:104361200-104362600	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr12:104361200-104362800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:104361200-104362800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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