Variant report

Variant	rs4768735
Chromosome Location	chr12:46944134-46944135
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46942932..46945589-chr12:46948248..46950851,2	MCF-7	breast:
2	chr12:46766323..46768066-chr12:46942252..46945383,3	K562	blood:
3	chr12:46941171..46945201-chr12:46945236..46949422,7	K562	blood:
4	chr12:46661429..46663096-chr12:46943395..46946017,2	K562	blood:
5	chr12:46943748..46944525-chr19:45970915..45971467,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000125740	Chromatin interaction
ENSG00000111371	Chromatin interaction
ENSG00000134294	Chromatin interaction

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

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

rs_ID	r²[population]
rs10785630	0.82[GIH][hapmap]
rs10785631	1.00[YRI][hapmap]
rs10880975	0.85[YRI][hapmap]
rs10880976	0.92[YRI][hapmap]
rs10880980	0.83[AFR][1000 genomes]
rs11183527	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615015	0.85[JPT][hapmap]
rs1946175	0.80[AFR][1000 genomes]
rs2252238	0.81[TSI][hapmap]
rs2430940	0.93[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2471583	0.93[LWK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2471601	0.82[AFR][1000 genomes]
rs6582666	1.00[YRI][hapmap]
rs7315480	0.96[CEU][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription 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	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases
5	esv3402095	chr12:46937340-46983181	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46928400-46948600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:46939600-46944200	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr12:46940000-46945600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:46940200-46944200	Enhancers	HSMM	muscle
5	chr12:46940200-46945400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr12:46940200-46950400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:46940200-46955000	Enhancers	HMEC	breast
8	chr12:46940400-46944400	Enhancers	NHLF	lung
9	chr12:46940400-46944600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:46940600-46944400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:46940600-46953600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:46940800-46947200	Enhancers	NHDF-Ad	bronchial
13	chr12:46941000-46944400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:46941000-46949200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:46941400-46956200	Weak transcription	Primary B cells from cord blood	blood
16	chr12:46941800-46944400	Enhancers	HUVEC	blood vessel
17	chr12:46941800-46944800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:46942000-46944200	Enhancers	NH-A	brain
19	chr12:46942000-46947000	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:46942400-46947000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:46942600-46947000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:46942600-46948200	Weak transcription	Adipose Nuclei	Adipose
23	chr12:46942800-46946200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:46942800-46946600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:46942800-46949400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:46943200-46944600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr12:46943200-46947000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:46943400-46944200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr12:46943400-46944200	Flanking Active TSS	A549	lung
30	chr12:46943400-46944200	Flanking Active TSS	Hela-S3	cervix
31	chr12:46943400-46944600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:46943400-46944600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr12:46943400-46947000	Weak transcription	Psoas Muscle	Psoas
34	chr12:46943600-46944200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr12:46943600-46944200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr12:46943600-46944400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:46943800-46944200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:46943800-46944400	Enhancers	GM12878-XiMat	blood
39	chr12:46943800-46944400	Enhancers	Osteobl	bone
40	chr12:46943800-46945400	Enhancers	K562	blood
41	chr12:46943800-46946200	Weak transcription	Placenta	Placenta
42	chr12:46943800-46948600	Weak transcription	Fetal Heart	heart
43	chr12:46943800-46948800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:46944000-46944200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr12:46944000-46944200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:46944000-46944400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:46944000-46946400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:46944000-46946800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:46944000-46947000	Weak transcription	HSMMtube	muscle
50	chr12:46944000-46948600	Enhancers	NHEK	skin

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