Variant report

Variant	rs144951702
Chromosome Location	chr15:34602425-34602426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:34602368-34602696	H1-hESC	embryonic stem cell:	n/a	n/a
2	IRF4	chr15:34602239-34603050	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:34602333-34602583	A549	lung:	n/a	n/a
4	POLR2A	chr15:34602221-34603195	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:34602247-34603059	GM12878	blood:	n/a	n/a
6	NR3C1	chr15:34602223-34603045	A549	lung:	n/a	n/a
7	NR3C1	chr15:34602335-34603054	A549	lung:	n/a	n/a
8	POLR2A	chr15:34602295-34603030	GM12878	blood:	n/a	n/a
9	POLR2A	chr15:34602306-34603071	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:34602212-34603177	GM12891	blood:	n/a	n/a
11	POLR2A	chr15:34602270-34603141	GM12891	blood:	n/a	n/a
12	GATA2	chr15:34602375-34603003	K562	blood:	n/a	n/a
13	PAX5	chr15:34602223-34603073	GM12878	blood:	n/a	n/a
14	POLR2A	chr15:34602236-34603189	GM12891	blood:	n/a	n/a
15	ZBTB33	chr15:34602368-34602881	K562	blood:	n/a	n/a
16	POLR2A	chr15:34602226-34603135	GM12892	blood:	n/a	n/a
17	POU2F2	chr15:34602236-34603075	GM12878	blood:	n/a	n/a
18	SP1	chr15:34602419-34602784	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:34597292..34600237-chr15:34600566..34603010,2	K562	blood:
2	chr15:34600219..34602527-chr15:34605319..34607496,2	K562	blood:
3	chr15:34598914..34602759-chr15:34631261..34635438,4	K562	blood:
4	chr15:34546535..34549806-chr15:34599595..34603199,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000207091	TF binding region
ENSG00000207091	Chromatin interaction
ENSG00000259468	Chromatin interaction
ENSG00000182117	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052804	chr15:34498529-34841447	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv542341	chr15:34498529-34841447	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv1798578	chr15:34543021-34988247	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1804312	chr15:34543021-34988247	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	esv1821622	chr15:34543021-34988247	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	esv1850950	chr15:34543021-34988247	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	esv2758376	chr15:34543021-34988247	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	esv2760024	chr15:34543021-34988247	Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
9	nsv428303	chr15:34543021-34988247	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS 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 miRNA target site	45 gene(s)	inside rSNPs	diseases
10	nsv1036475	chr15:34552879-34841587	Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv542342	chr15:34552879-34841587	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv1048550	chr15:34553078-34841447	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	nsv542343	chr15:34553078-34841447	Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
14	nsv471682	chr15:34560451-34882630	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
15	nsv469547	chr15:34594557-34757807	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
16	nsv482528	chr15:34594557-34757807	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
17	esv1817014	chr15:34598601-34911177	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
18	esv1817924	chr15:34598601-34911177	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
19	esv1847172	chr15:34598601-34911177	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
20	esv1802396	chr15:34598601-34988247	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
21	esv1809360	chr15:34598601-34988247	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
22	esv1844776	chr15:34598601-34988247	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
23	nsv427957	chr15:34598601-34988247	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
24	esv3442725	chr15:34601210-34604008	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34551200-34608800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr15:34555200-34606600	Weak transcription	Thymus	Thymus
3	chr15:34577600-34608800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr15:34577600-34610200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr15:34577800-34608800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr15:34578200-34606800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr15:34579000-34603800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr15:34582600-34609600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:34582600-34610200	Weak transcription	Fetal Lung	lung
10	chr15:34583400-34609600	Weak transcription	Adipose Nuclei	Adipose
11	chr15:34583800-34610600	Weak transcription	Pancreas	Pancrea
12	chr15:34585000-34609600	Weak transcription	Spleen	Spleen
13	chr15:34585000-34610600	Weak transcription	Lung	lung
14	chr15:34585200-34609600	Weak transcription	Fetal Stomach	stomach
15	chr15:34585200-34615600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:34585400-34608600	Weak transcription	Liver	Liver
17	chr15:34585800-34604600	Weak transcription	Fetal Intestine Large	intestine
18	chr15:34585800-34610400	Weak transcription	Ovary	ovary
19	chr15:34586600-34609800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr15:34587000-34610200	Weak transcription	Fetal Intestine Small	intestine
21	chr15:34587800-34604400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr15:34589800-34610600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr15:34590000-34609000	Weak transcription	Colon Smooth Muscle	Colon
24	chr15:34590000-34610400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr15:34590000-34610600	Weak transcription	Small Intestine	intestine
26	chr15:34590200-34603800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr15:34590400-34604200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr15:34592200-34608400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr15:34592600-34603800	Weak transcription	Primary T cells from cord blood	blood
30	chr15:34593000-34610600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr15:34593600-34605400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr15:34593800-34609000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:34594000-34607000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:34594000-34609400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr15:34594000-34610600	Weak transcription	Gastric	stomach
36	chr15:34594400-34605800	Weak transcription	Fetal Heart	heart
37	chr15:34596000-34610200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr15:34596400-34610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr15:34597400-34610000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:34597400-34610000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:34597400-34610200	Weak transcription	NHLF	lung
42	chr15:34597600-34606600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:34597600-34606600	Weak transcription	Osteobl	bone
44	chr15:34597800-34606600	Weak transcription	HepG2	liver
45	chr15:34598400-34607000	Weak transcription	Brain Angular Gyrus	brain
46	chr15:34598600-34610800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr15:34598800-34609600	Weak transcription	Left Ventricle	heart
48	chr15:34598800-34609600	Weak transcription	Right Ventricle	heart
49	chr15:34599000-34605800	Weak transcription	Aorta	Aorta
50	chr15:34599200-34610400	Weak transcription	Fetal Thymus	thymus

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