Variant report

Variant	rs12147655
Chromosome Location	chr14:103850906-103850907
allele	C/G
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	GABPA	chr14:103850724-103852320	MCF-7	breast:	n/a	chr14:103852100-103852109
2	HDAC2	chr14:103850895-103852203	MCF-7	breast:	n/a	n/a
3	POLR2A	chr14:103850814-103852207	H1-neurons	neurons:	n/a	n/a
4	MXI1	chr14:103850656-103853805	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr14:103850831-103852743	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr14:103850585-103853046	H1-neurons	neurons:	n/a	chr14:103850840-103850850 chr14:103851177-103851185 chr14:103851774-103851784
7	TAF1	chr14:103850790-103852123	H1-neurons	neurons:	n/a	n/a
8	CHD1	chr14:103850365-103853884	IMR90	lung:	n/a	chr14:103852260-103852267
9	RFX5	chr14:103850774-103853871	SK-N-SH	brain:	n/a	chr14:103851627-103851642 chr14:103852700-103852713 chr14:103851628-103851642 chr14:103851630-103851639
10	ELF1	chr14:103850423-103852133	MCF-7	breast:	n/a	chr14:103851786-103851795 chr14:103851781-103851793 chr14:103851704-103851713 chr14:103851967-103851976 chr14:103851963-103851972
11	POLR2A	chr14:103850793-103852175	H1-neurons	neurons:	n/a	n/a
12	NR2F2	chr14:103850452-103852085	MCF-7	breast:	n/a	n/a
13	MAX	chr14:103850438-103852917	MCF-7	breast:	n/a	n/a
14	POLR2A	chr14:103850451-103853306	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:103840813..103842948-chr14:103850567..103853142,2	MCF-7	breast:
2	chr14:103804940..103815889-chr14:103850459..103863829,28	K562	blood:
3	chr14:103794753..103806137-chr14:103849038..103864103,36	MCF-7	breast:
4	chr14:103806698..103810659-chr14:103850742..103855221,6	MCF-7	breast:
5	chr14:103799041..103818802-chr14:103836567..103862153,82	K562	blood:
6	chr14:103827117..103828725-chr14:103849989..103851539,2	K562	blood:
7	chr14:103797262..103804754-chr14:103849003..103864058,49	MCF-7	breast:
8	chr14:103798959..103802101-chr14:103850214..103852987,6	K562	blood:

Variant related genes	Relation type
MARK3	TF binding region
ENSG00000100664	Chromatin interaction
ENSG00000272533	Chromatin interaction
ENSG00000243904	Chromatin interaction
ENSG00000259775	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10459573	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11160750	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11541718	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11625172	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12185021	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12588705	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12879663	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12881583	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12883668	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12885234	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12885714	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12885762	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12885786	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12888042	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12889703	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12892062	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12894275	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12896612	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12896832	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12896919	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13987	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17617094	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17617307	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17617832	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17617935	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17679729	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17680085	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1951389	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2065015	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2065016	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2065017	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2065018	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28711288	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34161327	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34347076	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34372508	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34479426	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34606394	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35056010	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35126287	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35224956	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35339837	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35344594	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35366629	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35443927	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35466180	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35771849	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35799018	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35862113	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35999760	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3783396	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3783397	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3783398	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3783400	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4900574	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4900575	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4906323	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4906327	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4906330	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4906331	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4906332	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55731474	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55930273	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59858038	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7141674	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71417863	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7143609	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7155822	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7155980	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7159665	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7401563	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8004501	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8004780	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8012127	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8012623	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]

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	nsv1042714	chr14:103085298-103860730	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
3	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
4	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv542200	chr14:103838939-103868007	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103845400-103851000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr14:103850400-103851400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:103850400-103851400	Flanking Active TSS	Dnd41	blood
4	chr14:103850600-103851000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
5	chr14:103850600-103851000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
6	chr14:103850600-103851000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr14:103850600-103851000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
8	chr14:103850600-103851000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:103850600-103851000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:103850600-103851000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:103850600-103851000	Enhancers	Primary B cells from peripheral blood	blood
12	chr14:103850600-103851000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:103850600-103851000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:103850600-103851000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr14:103850600-103851000	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr14:103850600-103851000	Flanking Active TSS	Fetal Brain Female	brain
17	chr14:103850600-103851000	Enhancers	Placenta	Placenta
18	chr14:103850600-103851000	Enhancers	Fetal Stomach	stomach
19	chr14:103850600-103851000	Enhancers	Pancreas	Pancrea
20	chr14:103850600-103851000	Enhancers	Psoas Muscle	Psoas
21	chr14:103850600-103851000	Enhancers	Stomach Mucosa	stomach
22	chr14:103850600-103851000	Enhancers	K562	blood
23	chr14:103850600-103851000	Flanking Active TSS	Osteobl	bone
24	chr14:103850600-103851200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:103850600-103851200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:103850600-103851200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:103850600-103851200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
28	chr14:103850600-103851200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:103850600-103851200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:103850600-103851200	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr14:103850600-103851200	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr14:103850600-103851200	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr14:103850600-103851200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr14:103850600-103851200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:103850600-103851200	Flanking Active TSS	HepG2	liver
36	chr14:103850600-103851200	Flanking Active TSS	NHDF-Ad	bronchial
37	chr14:103850600-103851200	Flanking Active TSS	NHLF	lung
38	chr14:103850600-103851400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr14:103850600-103851400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr14:103850600-103851400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:103850600-103851400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:103850600-103851400	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr14:103850600-103851400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr14:103850600-103851400	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr14:103850600-103851400	Flanking Active TSS	GM12878-XiMat	blood
46	chr14:103850600-103851400	Flanking Active TSS	HMEC	breast
47	chr14:103850600-103851400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr14:103850600-103851600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr14:103850600-103851600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:103850800-103851000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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