Variant report

Variant	rs11112412
Chromosome Location	chr12:105612315-105612316
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:105612289-105612419	Fibrobl	skin:	n/a	n/a
2	CTCF	chr12:105612260-105612410	AG04449	skin:	n/a	n/a
3	CTCF	chr12:105612260-105612410	AG10803	skin:	n/a	n/a
4	CTCF	chr12:105612280-105612430	BJ	skin:	n/a	n/a
5	CTCF	chr12:105612180-105612330	HFF	foreskin:	n/a	n/a
6	CTCF	chr12:105612300-105612450	NHEK	skin:	n/a	n/a
7	CTCF	chr12:105612260-105612410	BJ	skin:	n/a	n/a
8	CTCF	chr12:105612283-105612421	NHEK	skin:	n/a	n/a
9	CTCF	chr12:105612280-105612430	AG10803	skin:	n/a	n/a
10	CTCF	chr12:105612260-105612410	NHDF-neo	bronchial:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:105608691..105610894-chr12:105612066..105614500,4	MCF-7	breast:
2	chr12:105610784..105617210-chr12:105628529..105631630,8	MCF-7	breast:
3	chr12:105608225..105613366-chr12:105619333..105624104,5	MCF-7	breast:
4	chr12:105606795..105619301-chr12:105624368..105633184,26	MCF-7	breast:
5	chr12:105609511..105612358-chr12:105625566..105629291,3	K562	blood:

No data

Variant related genes	Relation type
APPL2	TF binding region
ENSG00000136044	Chromatin interaction
ENSG00000235162	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1014502	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10431460	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10459203	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs10459204	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs1057110	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1077896	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10861334	0.80[CEU][hapmap];0.82[CHB][hapmap]
rs10861339	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs10861359	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10861361	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1109433	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11112369	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11112370	1.00[CEU][hapmap];0.83[CHB][hapmap];0.80[JPT][hapmap];0.93[EUR][1000 genomes]
rs11112372	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11112375	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11112376	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11112379	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11112388	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112409	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112415	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11112416	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11112421	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11112423	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11112432	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11831854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11832489	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11834277	0.93[EUR][1000 genomes]
rs12228093	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12228948	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12812433	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12815031	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12819309	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12823614	0.82[CEU][hapmap];0.88[CHB][hapmap]
rs12830078	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1317955	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1373552	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1444611	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1470381	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2166143	0.87[CEU][hapmap];0.81[CHB][hapmap]
rs2272495	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2293643	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2293644	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28549976	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34075890	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34983773	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35462155	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35672903	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3736628	0.84[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3794222	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3794223	1.00[CEU][hapmap];0.80[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3794224	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3794227	0.94[CEU][hapmap];0.80[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3817607	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3829296	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4964125	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4964334	0.89[EUR][1000 genomes]
rs4964335	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4964336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4964338	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4964339	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4964340	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4964342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55908437	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56693261	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73179994	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7485364	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs755604	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8015	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs881279	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9919746	0.93[EUR][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	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers 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	15 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	chr12:105546800-105625200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:105558800-105615200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:105571400-105617800	Weak transcription	K562	blood
4	chr12:105577400-105616200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:105578000-105623200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:105578200-105620000	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr12:105579000-105612400	Strong transcription	Stomach Smooth Muscle	stomach
8	chr12:105580200-105613200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:105584000-105627000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:105589400-105612400	Weak transcription	Fetal Heart	heart
11	chr12:105590200-105620000	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:105590400-105618800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr12:105591000-105619400	Strong transcription	Primary T cells from cord blood	blood
14	chr12:105594400-105614400	Weak transcription	Small Intestine	intestine
15	chr12:105595000-105612800	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:105595000-105618800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:105595600-105612800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:105595800-105616600	Strong transcription	Primary hematopoietic stem cells	blood
19	chr12:105596000-105617000	Strong transcription	Fetal Lung	lung
20	chr12:105596400-105621800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:105599400-105612400	Strong transcription	Brain Anterior Caudate	brain
22	chr12:105600800-105626800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:105601000-105612400	Strong transcription	Fetal Stomach	stomach
24	chr12:105601000-105615800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:105601000-105619200	Weak transcription	GM12878-XiMat	blood
26	chr12:105601400-105615800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:105604200-105616200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:105604400-105612400	Strong transcription	Lung	lung
29	chr12:105604400-105613000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:105604400-105618400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:105605600-105628400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:105605800-105612400	Strong transcription	Fetal Muscle Leg	muscle
33	chr12:105606400-105612400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:105606400-105614800	Strong transcription	Primary B cells from cord blood	blood
35	chr12:105606600-105616600	Strong transcription	Fetal Thymus	thymus
36	chr12:105606800-105617000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr12:105607200-105615800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:105607200-105618600	Genic enhancers	Fetal Intestine Large	intestine
39	chr12:105608000-105613400	Strong transcription	Dnd41	blood
40	chr12:105608200-105615600	Strong transcription	Fetal Brain Female	brain
41	chr12:105608400-105613000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:105608400-105613800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr12:105608600-105612800	Strong transcription	Brain Germinal Matrix	brain
44	chr12:105608600-105618200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:105609000-105618600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:105609200-105612400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:105609200-105612400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:105609200-105615200	Weak transcription	HMEC	breast
49	chr12:105609200-105620400	Genic enhancers	Fetal Intestine Small	intestine
50	chr12:105609200-105622400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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