Variant report

Variant	rs934783
Chromosome Location	chr15:41077329-41077330
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr15:41077267-41077887	HCT-116	colon:	n/a	n/a
2	RAD21	chr15:41077193-41078008	HCT-116	colon:	n/a	n/a
3	RAD21	chr15:41077329-41077818	MCF-7	breast:	n/a	n/a
4	CTCF	chr15:41077309-41077730	MCF-7	breast:	n/a	n/a
5	CTCF	chr15:41077253-41078052	HCT-116	colon:	n/a	n/a
6	CTCF	chr15:41077261-41077835	HCT-116	colon:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41054893..41058052-chr15:41074280..41078169,3	MCF-7	breast:
2	chr15:41077154..41077869-chr15:41186385..41186957,2	K562	blood:
3	chr15:41076638..41081333-chr15:41183432..41186983,4	MCF-7	breast:
4	chr15:41076760..41081645-chr15:41164224..41167556,4	MCF-7	breast:
5	chr15:41076601..41080762-chr15:41116674..41123009,6	MCF-7	breast:
6	chr15:41073963..41081336-chr15:41133817..41139655,12	MCF-7	breast:
7	chr15:41070585..41074304-chr15:41075540..41078752,3	K562	blood:
8	chr15:41055716..41060288-chr15:41072655..41077591,4	MCF-7	breast:
9	chr15:41069195..41071599-chr15:41075080..41078053,2	MCF-7	breast:
10	chr15:41073204..41083534-chr15:41133992..41141155,16	MCF-7	breast:
11	chr15:41076789..41078035-chr15:41186014..41187592,6	MCF-7	breast:

No data

Variant related genes	Relation type
DNAJC17	TF binding region
ENSG00000166145	Chromatin interaction
ENSG00000264256	Chromatin interaction
ENSG00000166143	Chromatin interaction
ENSG00000104129	Chromatin interaction
ENSG00000261183	Chromatin interaction
ENSG00000104140	Chromatin interaction
ENSG00000137880	Chromatin interaction
ENSG00000104142	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12102251	0.85[AMR][1000 genomes]
rs16970995	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16970997	0.83[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16971004	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16971008	0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs16971013	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16971015	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs1814415	0.85[AMR][1000 genomes]
rs2004043	1.00[AMR][1000 genomes]
rs2007255	1.00[MEX][hapmap]
rs2412552	1.00[AMR][1000 genomes]
rs28460049	0.85[AMR][1000 genomes]
rs28480346	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28498351	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28578011	0.85[AMR][1000 genomes]
rs28716513	0.83[AMR][1000 genomes]
rs28718778	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28727420	0.85[AMR][1000 genomes]
rs28736321	0.85[AMR][1000 genomes]
rs34819163	0.83[AMR][1000 genomes]
rs4343248	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57191378	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57380807	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58036350	1.00[AMR][1000 genomes]
rs61317135	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61405952	0.85[AMR][1000 genomes]
rs6492966	1.00[MEX][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs7165694	0.86[LWK][hapmap];1.00[MEX][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7166719	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7169092	1.00[MEX][hapmap]
rs7172251	0.83[AMR][1000 genomes]
rs7178363	0.85[AMR][1000 genomes]
rs7182456	1.00[MEX][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs73398510	0.83[AMR][1000 genomes]
rs73398512	1.00[AMR][1000 genomes]
rs73398517	0.85[AMR][1000 genomes]
rs73398522	0.85[AMR][1000 genomes]
rs73398528	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73398537	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73398540	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73398560	0.85[AMR][1000 genomes]
rs73398591	0.85[AMR][1000 genomes]
rs8030958	1.00[MEX][hapmap]
rs9806730	1.00[MEX][hapmap]

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	nsv1053173	chr15:40933163-41094127	Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv542363	chr15:40933163-41094127	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv1054764	chr15:41068625-41196410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41062400-41079400	Weak transcription	Right Atrium	heart
2	chr15:41062600-41079000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr15:41067600-41085400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:41068000-41087800	Weak transcription	Fetal Heart	heart
5	chr15:41069200-41079200	Weak transcription	A549	lung
6	chr15:41069400-41077400	Weak transcription	Stomach Mucosa	stomach
7	chr15:41069400-41077800	Weak transcription	Small Intestine	intestine
8	chr15:41069400-41079200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr15:41069400-41079400	Weak transcription	NHDF-Ad	bronchial
10	chr15:41069800-41077800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:41071600-41077400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:41071800-41077600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr15:41071800-41077800	Weak transcription	Left Ventricle	heart
14	chr15:41071800-41078000	Weak transcription	HSMM	muscle
15	chr15:41071800-41078800	Weak transcription	Osteobl	bone
16	chr15:41071800-41079200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:41071800-41079200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr15:41071800-41079200	Weak transcription	Brain Substantia Nigra	brain
19	chr15:41072000-41077600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr15:41072000-41077600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr15:41072000-41077600	Weak transcription	HMEC	breast
22	chr15:41072000-41078800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr15:41072000-41078800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:41072000-41079000	Weak transcription	HUVEC	blood vessel
25	chr15:41072000-41079200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:41072200-41077600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr15:41072200-41077800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr15:41072200-41077800	Weak transcription	Fetal Lung	lung
29	chr15:41072200-41078800	Weak transcription	Brain Hippocampus Middle	brain
30	chr15:41072200-41079400	Weak transcription	Brain Anterior Caudate	brain
31	chr15:41072200-41079400	Weak transcription	Colon Smooth Muscle	Colon
32	chr15:41072200-41079400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr15:41072200-41079400	Weak transcription	Fetal Thymus	thymus
34	chr15:41072200-41079600	Weak transcription	Aorta	Aorta
35	chr15:41072400-41077400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:41072400-41077600	Weak transcription	Placenta	Placenta
37	chr15:41072400-41077600	Weak transcription	Ovary	ovary
38	chr15:41072400-41077600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr15:41072400-41077800	Weak transcription	Gastric	stomach
40	chr15:41072400-41077800	Weak transcription	Pancreas	Pancrea
41	chr15:41072400-41077800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr15:41072400-41078600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:41072400-41078600	Weak transcription	Esophagus	oesophagus
44	chr15:41072400-41078600	Weak transcription	Thymus	Thymus
45	chr15:41072400-41078600	Weak transcription	Dnd41	blood
46	chr15:41072400-41078800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr15:41072400-41078800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr15:41072400-41078800	Weak transcription	GM12878-XiMat	blood
49	chr15:41072400-41079000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr15:41072400-41079000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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