Variant report

Variant	rs7965292
Chromosome Location	chr12:124081779-124081780
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr12:124081515-124082024	HepG2	liver:	n/a	chr12:124081903-124081918 chr12:124081836-124081851
2	MAFK	chr12:124081655-124082003	IMR90	lung:	n/a	chr12:124081903-124081918 chr12:124081836-124081851
3	MAFF	chr12:124081688-124082026	HepG2	liver:	n/a	chr12:124081835-124081853
4	POLR2A	chr12:124081632-124084546	HepG2	liver:	n/a	n/a
5	MAFK	chr12:124081690-124082051	HepG2	liver:	n/a	chr12:124081903-124081918 chr12:124081836-124081851
6	SP1	chr12:124081688-124082172	H1-hESC	embryonic stem cell:	n/a	n/a
7	STAT3	chr12:124081524-124082081	MCF10A-Er-Src	breast:	n/a	n/a
8	MAFK	chr12:124081651-124081934	Hela-S3	cervix:	n/a	chr12:124081903-124081918 chr12:124081836-124081851
9	POLR2A	chr12:124080492-124084849	K562	blood:	n/a	n/a
10	POLR2A	chr12:124081765-124082063	U87	brain:	n/a	n/a
11	MAFK	chr12:124081727-124081990	K562	blood:	n/a	chr12:124081903-124081918 chr12:124081836-124081851

No.	Distal block	Cell Line	Cell type
1	chr12:124065661..124069328-chr12:124081746..124084446,4	K562	blood:
2	chr12:123848402..123850885-chr12:124079862..124083002,3	MCF-7	breast:
3	chr12:124080644..124082674-chr12:124097166..124099326,2	K562	blood:
4	chr12:123755326..123757299-chr12:124079928..124082713,2	MCF-7	breast:
5	chr12:124081195..124083992-chr12:124117533..124119708,3	MCF-7	breast:
6	chr12:124075051..124078239-chr12:124079848..124084285,5	K562	blood:
7	chr12:123752131..123754716-chr12:124081309..124084264,2	MCF-7	breast:
8	chr12:124069965..124078255-chr12:124078837..124084347,12	K562	blood:
9	chr12:124076446..124078757-chr12:124080091..124082095,2	MCF-7	breast:

Variant related genes	Relation type
DDX55	TF binding region
ENSG00000111361	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000111358	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs11057302	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs11572911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11572928	0.92[EUR][1000 genomes]
rs11572929	0.92[EUR][1000 genomes]
rs11572931	0.92[EUR][1000 genomes]
rs11572938	0.92[EUR][1000 genomes]
rs11572956	0.92[EUR][1000 genomes]
rs11572962	0.92[EUR][1000 genomes]
rs11572992	0.92[EUR][1000 genomes]
rs11573002	0.92[EUR][1000 genomes]
rs11573005	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11573006	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11610013	0.91[AFR][1000 genomes]
rs11829661	0.93[AFR][1000 genomes]
rs11831129	1.00[EUR][1000 genomes]
rs11834369	0.83[AFR][1000 genomes]
rs11837236	0.90[AFR][1000 genomes]
rs12099985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12099986	0.90[AFR][1000 genomes]
rs1568031	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17881657	0.92[EUR][1000 genomes]
rs1877365	0.95[YRI][hapmap];0.88[AFR][1000 genomes]
rs1913847	0.92[EUR][1000 genomes]
rs2340691	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs28627432	0.92[EUR][1000 genomes]
rs28743126	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs35917561	0.92[EUR][1000 genomes]
rs3850953	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4534668	0.92[EUR][1000 genomes]
rs56816130	0.92[EUR][1000 genomes]
rs58680194	0.92[EUR][1000 genomes]
rs59279556	0.92[EUR][1000 genomes]
rs60422010	0.92[EUR][1000 genomes]
rs60577371	0.92[EUR][1000 genomes]
rs61082817	0.92[EUR][1000 genomes]
rs6488881	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs6488882	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6488885	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6488886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6488889	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7134190	1.00[EUR][1000 genomes]
rs7136101	0.81[AFR][1000 genomes]
rs7137130	0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs7301031	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7301377	0.90[AFR][1000 genomes]
rs7303554	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7306906	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73416265	0.92[EUR][1000 genomes]
rs73416269	0.92[EUR][1000 genomes]
rs73416277	0.92[EUR][1000 genomes]
rs73416283	1.00[EUR][1000 genomes]
rs73416298	0.92[EUR][1000 genomes]
rs73416299	0.92[EUR][1000 genomes]
rs73416301	0.92[EUR][1000 genomes]
rs73418103	0.92[EUR][1000 genomes]
rs73418104	0.92[EUR][1000 genomes]
rs73418107	0.92[EUR][1000 genomes]
rs73418114	0.92[EUR][1000 genomes]
rs73418125	0.92[EUR][1000 genomes]
rs73418139	0.92[EUR][1000 genomes]
rs73418153	0.92[EUR][1000 genomes]
rs73418167	0.92[EUR][1000 genomes]
rs73418179	0.92[EUR][1000 genomes]
rs786429	0.82[YRI][hapmap]
rs786435	0.81[YRI][hapmap]
rs786439	0.81[YRI][hapmap]
rs7954782	0.88[AFR][1000 genomes]
rs7956769	1.00[CEU][hapmap]
rs7958153	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs7960812	0.84[AFR][1000 genomes]
rs7964934	1.00[CEU][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7968040	0.87[AFR][1000 genomes]
rs7968699	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7970545	0.90[AFR][1000 genomes]
rs7971779	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs7973187	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7973689	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7974138	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs952360	1.00[YRI][hapmap];0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' 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	45 gene(s)	inside rSNPs	diseases
5	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2422416	chr12:124009676-124085689	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv1042181	chr12:124037400-124152950	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124070000-124085800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:124070600-124082200	Strong transcription	Fetal Muscle Leg	muscle
3	chr12:124070600-124084400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:124071200-124082800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:124071200-124083400	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:124071200-124083400	Strong transcription	Fetal Intestine Large	intestine
7	chr12:124071200-124083600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:124071200-124083600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr12:124071200-124083600	Strong transcription	Fetal Muscle Trunk	muscle
10	chr12:124071200-124083800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:124071200-124083800	Strong transcription	Placenta	Placenta
12	chr12:124071200-124084000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:124071200-124084000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr12:124071200-124084800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:124071400-124082800	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr12:124071400-124083000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:124071600-124084400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:124071800-124083600	Strong transcription	Primary hematopoietic stem cells	blood
19	chr12:124072200-124085800	Weak transcription	Small Intestine	intestine
20	chr12:124072400-124082200	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr12:124072400-124083800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:124072600-124082400	Strong transcription	Thymus	Thymus
23	chr12:124072600-124083400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:124072600-124083400	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:124072800-124084200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:124073000-124083600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:124073200-124084200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:124073400-124082400	Strong transcription	NHEK	skin
29	chr12:124073400-124084000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:124073600-124081800	Strong transcription	Colonic Mucosa	Colon
31	chr12:124073600-124082400	Strong transcription	Fetal Brain Female	brain
32	chr12:124073600-124083400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:124073600-124083600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr12:124073600-124083800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:124073600-124083800	Strong transcription	Left Ventricle	heart
36	chr12:124073800-124082200	Strong transcription	Brain Angular Gyrus	brain
37	chr12:124073800-124082200	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr12:124073800-124083000	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr12:124073800-124083200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:124073800-124083400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr12:124073800-124083600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr12:124073800-124083800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:124073800-124083800	Strong transcription	Stomach Smooth Muscle	stomach
44	chr12:124073800-124084200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:124073800-124084600	Strong transcription	Fetal Thymus	thymus
46	chr12:124073800-124085200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:124073800-124085400	Weak transcription	Stomach Mucosa	stomach
48	chr12:124074000-124083200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr12:124074000-124083800	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:124074000-124084400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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