Variant report

Variant	rs10141049
Chromosome Location	chr14:67707645-67707646
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:257)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr14:67706800-67708968	MCF-7	breast:	n/a	n/a
2	ATF2	chr14:67707601-67708011	GM12878	blood:	n/a	n/a
3	RELA	chr14:67707229-67708864	GM18951	blood:	n/a	n/a
4	POLR2A	chr14:67707147-67709077	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr14:67707117-67708865	ProgFib	skin:	n/a	n/a
6	POLR2A	chr14:67707616-67707928	GM12892	blood:	n/a	n/a
7	POLR2A	chr14:67707610-67708800	NB4	blood:	n/a	n/a
8	POLR2A	chr14:67707626-67708774	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr14:67706963-67708093	HepG2	liver:	n/a	n/a
10	TCF7L2	chr14:67707183-67708819	HCT-116	colon:	n/a	n/a
11	POLR2A	chr14:67707634-67708756	A549	lung:	n/a	n/a
12	MYC	chr14:67707223-67708901	NB4	blood:	n/a	n/a
13	MYC	chr14:67707315-67708353	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr14:67707460-67707788	MCF10A-Er-Src	breast:	n/a	chr14:67707498-67707506 chr14:67707492-67707512 chr14:67707495-67707509
15	POLR2A	chr14:67707368-67708818	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr14:67707136-67708882	U87	brain:	n/a	n/a
17	POLR2A	chr14:67706789-67708842	Hela-S3	cervix:	n/a	n/a
18	MYC	chr14:67707513-67708563	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr14:67707321-67707847	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr14:67707635-67707931	HepG2	liver:	n/a	n/a
21	POLR2A	chr14:67707627-67708711	K562	blood:	n/a	n/a
22	POLR2A	chr14:67707610-67708847	GM12878	blood:	n/a	n/a
23	GATA3	chr14:67707154-67709045	MCF-7	breast:	n/a	n/a
24	SIN3AK20	chr14:67707343-67708837	SK-N-SH	brain:	n/a	n/a
25	MAX	chr14:67707149-67708837	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr14:67707390-67708837	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF2	chr14:67707487-67707860	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr14:67706988-67709206	IMR90	lung:	n/a	n/a
29	CHD2	chr14:67707492-67708730	HepG2	liver:	n/a	n/a
30	TBP	chr14:67707140-67708233	Hela-S3	cervix:	n/a	n/a
31	CREB1	chr14:67707069-67708860	HepG2	liver:	n/a	n/a
32	SIN3AK20	chr14:67706931-67709086	MCF-7	breast:	n/a	n/a
33	MAX	chr14:67707289-67708750	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr14:67707073-67708886	Hela-S3	cervix:	n/a	n/a
35	MAX	chr14:67707165-67708929	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr14:67707296-67708704	HepG2	liver:	n/a	n/a
37	TFAP2C	chr14:67706849-67708673	Hela-S3	cervix:	n/a	n/a
38	TAF1	chr14:67707644-67708704	HepG2	liver:	n/a	n/a
39	SMARCB1	chr14:67707009-67708770	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr14:67707560-67708570	GM12878	blood:	n/a	n/a
41	BRCA1	chr14:67707565-67708198	GM12878	blood:	n/a	n/a
42	MTA3	chr14:67707137-67707922	GM12878	blood:	n/a	n/a
43	RFX5	chr14:67707632-67708795	HepG2	liver:	n/a	n/a
44	POLR2A	chr14:67707632-67708912	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr14:67707572-67707909	GM12891	blood:	n/a	n/a
46	POLR2A	chr14:67706893-67709040	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr14:67707484-67708863	HUVEC	blood vessel:	n/a	n/a
48	FOS	chr14:67707500-67707854	MCF10A-Er-Src	breast:	n/a	chr14:67707644-67707654 chr14:67707816-67707830
49	CEBPB	chr14:67707625-67708729	HepG2	liver:	n/a	n/a
50	RAD21	chr14:67707230-67707918	Hela-S3	cervix:	n/a	chr14:67707552-67707566

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65627799..65628455-chr14:67706816..67707712,2	Hela-S3	cervix:
2	chr14:67707644..67708448-chr6:36561991..36562788,2	Hela-S3	cervix:
3	chr14:67705865..67709673-chr14:67825015..67827419,4	MCF-7	breast:
4	chr14:67693784..67695307-chr14:67706692..67708259,2	MCF-7	breast:
5	chr14:67665237..67668000-chr14:67705488..67708368,2	MCF-7	breast:
6	chr14:67706036..67709545-chr14:67826326..67828458,4	MCF-7	breast:

No data

Variant related genes	Relation type
MPP5	TF binding region
ENSG00000100554	Chromatin interaction
ENSG00000134001	Chromatin interaction
ENSG00000172717	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000258988	Chromatin interaction
ENSG00000112081	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10083528	0.84[EUR][1000 genomes]
rs10129218	0.84[EUR][1000 genomes]
rs10130606	1.00[EUR][1000 genomes]
rs10135565	0.84[EUR][1000 genomes]
rs10136835	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140203	0.84[EUR][1000 genomes]
rs10144002	0.84[EUR][1000 genomes]
rs10145458	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148114	0.84[EUR][1000 genomes]
rs10150612	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151131	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379087	0.84[EUR][1000 genomes]
rs13379190	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379449	0.84[EUR][1000 genomes]
rs17103913	0.92[EUR][1000 genomes]
rs17104018	1.00[EUR][1000 genomes]
rs28410937	1.00[EUR][1000 genomes]
rs28503899	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35236021	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59984712	0.84[EUR][1000 genomes]
rs6573767	0.84[EUR][1000 genomes]
rs7144147	1.00[EUR][1000 genomes]
rs7149826	0.84[EUR][1000 genomes]
rs7154820	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7156177	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157676	0.84[EUR][1000 genomes]
rs8008820	0.84[EUR][1000 genomes]
rs8012994	0.84[EUR][1000 genomes]
rs8013980	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014465	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8020334	0.84[EUR][1000 genomes]
rs8022938	0.84[EUR][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	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv902060	chr14:67417083-67760538	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1040257	chr14:67634585-67762806	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr14:67706800-67707800	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr14:67706800-67707800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr14:67706800-67708800	Active TSS	Gastric	stomach
4	chr14:67706800-67709000	Active TSS	Aorta	Aorta
5	chr14:67706800-67709000	Active TSS	Rectal Smooth Muscle	rectum
6	chr14:67706800-67709200	Active TSS	Brain Angular Gyrus	brain
7	chr14:67706800-67709200	Active TSS	Colonic Mucosa	Colon
8	chr14:67706800-67709200	Active TSS	Psoas Muscle	Psoas
9	chr14:67706800-67709600	Active TSS	Brain Anterior Caudate	brain
10	chr14:67706800-67709600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr14:67706800-67709600	Active TSS	K562	blood
12	chr14:67706800-67710000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:67707000-67707800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr14:67707000-67707800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr14:67707000-67707800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr14:67707000-67707800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr14:67707000-67707800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:67707000-67708200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:67707000-67708200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:67707000-67708800	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr14:67707000-67708800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:67707000-67708800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:67707000-67709000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr14:67707000-67709000	Active TSS	Ovary	ovary
25	chr14:67707000-67709000	Active TSS	Placenta Amnion	Placenta Amnion
26	chr14:67707000-67709200	Active TSS	H9 Cell Line	embryonic stem cell
27	chr14:67707000-67709200	Active TSS	Stomach Mucosa	stomach
28	chr14:67707000-67709400	Active TSS	Right Atrium	heart
29	chr14:67707000-67709800	Active TSS	Fetal Intestine Large	intestine
30	chr14:67707000-67710000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:67707200-67707800	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr14:67707200-67707800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:67707200-67708800	Active TSS	Esophagus	oesophagus
34	chr14:67707200-67708800	Active TSS	Left Ventricle	heart
35	chr14:67707200-67708800	Active TSS	Lung	lung
36	chr14:67707200-67708800	Active TSS	Pancreas	Pancrea
37	chr14:67707200-67708800	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr14:67707200-67708800	Active TSS	Small Intestine	intestine
39	chr14:67707200-67708800	Active TSS	Spleen	Spleen
40	chr14:67707200-67709000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:67707200-67709000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:67707200-67709200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:67707200-67709200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:67707200-67709200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr14:67707200-67709200	Active TSS	Colon Smooth Muscle	Colon
46	chr14:67707200-67709200	Active TSS	Thymus	Thymus
47	chr14:67707200-67709200	Bivalent/Poised TSS	HepG2	liver
48	chr14:67707200-67709400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:67707200-67709400	Active TSS	NHDF-Ad	bronchial
50	chr14:67707200-67709600	Active TSS	Breast Myoepithelial Primary Cells	Breast

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