Variant report

Variant	rs72681284
Chromosome Location	chr14:77839057-77839058
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	ZNF384	chr14:77838385-77839450	GM12878	blood:	n/a	n/a
2	RUNX3	chr14:77838552-77839207	GM12878	blood:	n/a	chr14:77839122-77839131 chr14:77839122-77839131
3	USF2	chr14:77838750-77839117	GM12878	blood:	n/a	n/a
4	BCL11A	chr14:77838674-77839080	GM12878	blood:	n/a	chr14:77838760-77838769
5	TBL1XR1	chr14:77838505-77839123	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:77838643-77839092	Raji	blood:	n/a	n/a
7	KAP1	chr14:77838647-77839108	HEK293	kidney:	n/a	n/a
8	NFIC	chr14:77838426-77839157	GM12878	blood:	n/a	n/a
9	RUNX3	chr14:77838493-77839231	GM12878	blood:	n/a	chr14:77839122-77839131 chr14:77839122-77839131
10	BATF	chr14:77838755-77839152	GM12878	blood:	n/a	chr14:77838801-77838810
11	MXI1	chr14:77838488-77839150	GM12878	blood:	n/a	n/a
12	MAFK	chr14:77838904-77839174	IMR90	lung:	n/a	n/a
13	POU2F2	chr14:77838434-77839207	GM12878	blood:	n/a	chr14:77838718-77838728 chr14:77838719-77838727 chr14:77839016-77839029 chr14:77839016-77839029
14	POU2F2	chr14:77838571-77839095	GM12891	blood:	n/a	chr14:77838718-77838728 chr14:77838719-77838727 chr14:77839016-77839029 chr14:77839016-77839029
15	EBF1	chr14:77838586-77839131	GM12878	blood:	n/a	n/a
16	RELA	chr14:77838412-77839079	GM19099	blood:	n/a	n/a
17	STAT3	chr14:77838474-77839119	GM12878	blood:	n/a	chr14:77839077-77839088
18	POU2F2	chr14:77838565-77839091	GM12891	blood:	n/a	chr14:77838718-77838728 chr14:77838719-77838727 chr14:77839016-77839029 chr14:77839016-77839029
19	FOS	chr14:77838884-77839119	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr14:77838839-77839169	U87	brain:	n/a	n/a
21	EP300	chr14:77838516-77839131	GM12878	blood:	n/a	chr14:77838770-77838780
22	POLR2A	chr14:77838833-77839169	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:77837551..77839904-chr14:77849824..77852525,2	MCF-7	breast:
2	chr14:77785710..77794377-chr14:77836948..77846491,26	MCF-7	breast:
3	chr14:77832875..77836043-chr14:77836828..77840686,4	MCF-7	breast:
4	chr14:77838311..77841794-chr14:77920547..77923802,4	MCF-7	breast:
5	chr14:77800069..77802729-chr14:77837038..77840150,3	MCF-7	breast:

Variant related genes	Relation type
SAMD15	TF binding region
ENSG00000009830	Chromatin interaction
ENSG00000100577	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10450933	0.91[ASN][1000 genomes]
rs17105674	0.82[EUR][1000 genomes]
rs17105759	0.91[ASN][1000 genomes]
rs17751122	0.91[ASN][1000 genomes]
rs2287397	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2293802	0.91[ASN][1000 genomes]
rs2302831	0.82[EUR][1000 genomes]
rs3742739	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55886156	0.82[EUR][1000 genomes]
rs55891221	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56018212	0.82[EUR][1000 genomes]
rs56091500	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56403921	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681225	0.82[EUR][1000 genomes]
rs72681227	0.82[EUR][1000 genomes]
rs72681229	0.82[EUR][1000 genomes]
rs72681235	0.82[EUR][1000 genomes]
rs72681243	0.89[EUR][1000 genomes]
rs72681261	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681262	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681263	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72681264	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681265	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681270	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681275	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681276	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681278	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681279	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681280	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681281	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73311381	1.00[ASN][1000 genomes]
rs8177546	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177560	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177565	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177567	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177568	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177571	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902107	chr14:77790416-77871777	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77809600-77842000	Weak transcription	HUVEC	blood vessel
2	chr14:77812800-77842000	Weak transcription	Pancreas	Pancrea
3	chr14:77813800-77842400	Weak transcription	Aorta	Aorta
4	chr14:77817000-77842000	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:77817200-77840000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:77817200-77841600	Weak transcription	Brain Germinal Matrix	brain
7	chr14:77817200-77842000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:77817400-77841200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr14:77818000-77842000	Weak transcription	Fetal Stomach	stomach
10	chr14:77822400-77841600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:77829600-77842000	Weak transcription	Spleen	Spleen
12	chr14:77829800-77842400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:77831000-77841400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr14:77832000-77842000	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:77832600-77841400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr14:77835400-77840400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:77835600-77839200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr14:77835600-77840800	Weak transcription	Brain Anterior Caudate	brain
19	chr14:77836000-77840600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:77836000-77842200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:77836000-77842400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:77836200-77839600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr14:77836200-77841200	Weak transcription	Primary T cells from cord blood	blood
24	chr14:77836200-77841600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr14:77836200-77841600	Weak transcription	Thymus	Thymus
26	chr14:77836200-77842000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr14:77836200-77842000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:77836200-77842000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:77836200-77842000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr14:77836400-77840600	Weak transcription	Dnd41	blood
31	chr14:77836400-77842000	Weak transcription	Fetal Thymus	thymus
32	chr14:77837400-77839400	Enhancers	Fetal Kidney	kidney
33	chr14:77837400-77841600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:77837400-77842000	Enhancers	HepG2	liver
35	chr14:77837600-77839200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:77837600-77840200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr14:77837600-77841400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr14:77837600-77841600	Enhancers	Primary hematopoietic stem cells	blood
39	chr14:77837800-77840200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:77837800-77841800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr14:77838000-77839800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:77838400-77839200	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr14:77838400-77839200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:77838400-77839600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr14:77838400-77840000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr14:77838400-77840200	Enhancers	Osteobl	bone
47	chr14:77838600-77839200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr14:77838600-77839200	Enhancers	Liver	Liver
49	chr14:77838600-77839200	Enhancers	NHLF	lung
50	chr14:77838600-77840000	Enhancers	Muscle Satellite Cultured Cells	--

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