Variant report

Variant	rs4766959
Chromosome Location	chr12:120628987-120628988
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120628864..120642103-chr12:120725347..120732286,54	K562	blood:
2	chr12:120550994..120553800-chr12:120627908..120629484,2	K562	blood:
3	chr12:120628211..120641965-chr12:120660551..120674110,39	K562	blood:
4	chr12:120553330..120555952-chr12:120628230..120631151,2	MCF-7	breast:
5	chr12:120626707..120642605-chr12:120719450..120732919,96	MCF-7	breast:
6	chr12:120595336..120597283-chr12:120628290..120631093,2	K562	blood:
7	chr12:120589064..120590793-chr12:120626859..120629130,2	K562	blood:
8	chr12:120554452..120556242-chr12:120628235..120629789,2	MCF-7	breast:
9	chr12:120603980..120606305-chr12:120628587..120630118,2	K562	blood:
10	chr12:120595955..120598371-chr12:120628466..120630923,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000089154	Chromatin interaction
ENSG00000089159	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000123009	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10735071	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10774543	0.92[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12230540	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12308065	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286046	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2696029	1.00[JPT][hapmap]
rs3845191	0.92[ASN][1000 genomes]
rs3956837	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767884	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6490286	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6490287	0.92[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7298516	1.00[JPT][hapmap]
rs7960843	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968689	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978656	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs965791	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	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 miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120563000-120629800	Strong transcription	Fetal Stomach	stomach
2	chr12:120563000-120630200	Strong transcription	Fetal Muscle Leg	muscle
3	chr12:120563200-120630400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:120563400-120629200	Strong transcription	Fetal Intestine Small	intestine
5	chr12:120563400-120630200	Strong transcription	Fetal Thymus	thymus
6	chr12:120563600-120629000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:120563600-120630200	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:120563600-120630200	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:120563600-120630200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:120563600-120630200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:120563600-120630200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr12:120563800-120629800	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr12:120563800-120630000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr12:120563800-120630200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:120564200-120629600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:120564400-120631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:120565000-120630200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:120565000-120630800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:120565200-120630200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:120565800-120629400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:120565800-120630200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:120565800-120630400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:120594200-120631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:120594600-120630200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr12:120604600-120630200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:120604600-120630200	Strong transcription	Stomach Smooth Muscle	stomach
27	chr12:120605000-120630200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:120605200-120629800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:120605400-120630200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:120605600-120629400	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr12:120605600-120629800	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:120605800-120629000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:120606200-120630200	Strong transcription	NHEK	skin
34	chr12:120606200-120630800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:120606400-120629000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:120609600-120630000	Strong transcription	Primary T cells from cord blood	blood
37	chr12:120613600-120630000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr12:120617000-120629800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:120617000-120630600	Weak transcription	Stomach Mucosa	stomach
40	chr12:120618600-120629000	Strong transcription	K562	blood
41	chr12:120618800-120630000	Strong transcription	Primary B cells from cord blood	blood
42	chr12:120619800-120629000	Strong transcription	Thymus	Thymus
43	chr12:120619800-120629200	Strong transcription	Fetal Brain Female	brain
44	chr12:120619800-120630200	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:120620400-120629000	Strong transcription	Placenta	Placenta
46	chr12:120620400-120630000	Strong transcription	HMEC	breast
47	chr12:120620600-120629400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:120621000-120630000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:120621200-120630200	Strong transcription	A549	lung
50	chr12:120621400-120629600	Strong transcription	NHLF	lung

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