Variant report

Variant	rs9972594
Chromosome Location	chr15:34633810-34633811
allele	C/T
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:8)
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	CEBPB	chr15:34633660-34634088	K562	blood:	n/a	n/a
2	ATF1	chr15:34633764-34633880	K562	blood:	n/a	n/a
3	MYC	chr15:34633701-34633930	NB4	blood:	n/a	n/a
4	CEBPB	chr15:34633627-34634575	K562	blood:	n/a	chr15:34634344-34634357
5	TAL1	chr15:34633582-34633943	K562	blood:	n/a	n/a
6	POLR2A	chr15:34633700-34635718	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:34632776..34635331-chr15:34879472..34881728,2	K562	blood:
2	chr15:34632008..34636763-chr15:34655757..34660926,8	K562	blood:
3	chr15:34633629..34635584-chr15:34657779..34659599,2	MCF-7	breast:
4	chr15:34628783..34632143-chr15:34633761..34637127,4	MCF-7	breast:
5	chr15:34632759..34637829-chr15:34654252..34657716,5	K562	blood:
6	chr15:34631461..34634427-chr15:34658346..34660565,2	K562	blood:
7	chr15:34633689..34636672-chr15:34659379..34661265,2	MCF-7	breast:
8	chr15:34515820..34518714-chr15:34632646..34635084,3	MCF-7	breast:

No data

Variant related genes	Relation type
SLC12A6	TF binding region
NUTM1	TF binding region
ENSG00000128463	Chromatin interaction
ENSG00000215252	Chromatin interaction
ENSG00000176454	Chromatin interaction
ENSG00000140199	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11853896	1.00[AMR][1000 genomes]
rs34098566	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 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	nsv1039577	chr15:34624178-34962093	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
25	nsv542344	chr15:34624178-34962093	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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
26	nsv542345	chr15:34626815-34841586	Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
27	nsv542346	chr15:34627015-34841447	Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
28	nsv915918	chr15:34627109-34841422	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
29	nsv916680	chr15:34627109-34964198	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
30	esv1822549	chr15:34628041-34909164	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
31	nsv1038524	chr15:34628041-34962093	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers 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
32	nsv542347	chr15:34628041-34962093	Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34630200-34634000	Weak transcription	Gastric	stomach
2	chr15:34630200-34634000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:34630200-34634000	Weak transcription	Spleen	Spleen
4	chr15:34630400-34634000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:34630600-34634000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:34630600-34634000	Weak transcription	Colonic Mucosa	Colon
7	chr15:34630600-34634000	Weak transcription	Fetal Kidney	kidney
8	chr15:34630600-34634000	Weak transcription	Ovary	ovary
9	chr15:34630600-34634000	Weak transcription	Right Atrium	heart
10	chr15:34630600-34634000	Weak transcription	Right Ventricle	heart
11	chr15:34630600-34634000	Weak transcription	Stomach Mucosa	stomach
12	chr15:34630600-34634200	Weak transcription	Aorta	Aorta
13	chr15:34630600-34635000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr15:34630800-34634000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:34630800-34634000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr15:34630800-34634000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr15:34630800-34634000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:34630800-34634000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr15:34630800-34634000	Weak transcription	Colon Smooth Muscle	Colon
20	chr15:34630800-34634000	Weak transcription	Fetal Brain Male	brain
21	chr15:34630800-34634000	Weak transcription	Fetal Brain Female	brain
22	chr15:34630800-34634000	Weak transcription	Fetal Intestine Large	intestine
23	chr15:34630800-34634000	Weak transcription	Pancreas	Pancrea
24	chr15:34630800-34634000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr15:34630800-34634000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr15:34630800-34634200	Weak transcription	Brain Angular Gyrus	brain
27	chr15:34630800-34634200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr15:34630800-34634400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr15:34630800-34634400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr15:34631000-34634000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:34631000-34634000	Weak transcription	Brain Germinal Matrix	brain
32	chr15:34631000-34634000	Strong transcription	Fetal Thymus	thymus
33	chr15:34631000-34634000	Strong transcription	NH-A	brain
34	chr15:34631200-34634000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:34631200-34634000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr15:34631200-34634000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:34631200-34634000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:34631200-34634000	Strong transcription	Fetal Muscle Trunk	muscle
39	chr15:34631200-34634000	Strong transcription	Fetal Muscle Leg	muscle
40	chr15:34631200-34634000	Strong transcription	A549	lung
41	chr15:34631200-34634000	Strong transcription	Osteobl	bone
42	chr15:34631400-34634000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr15:34631400-34634000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr15:34631600-34634000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr15:34631600-34634000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:34631800-34634000	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr15:34631800-34634000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr15:34631800-34634000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr15:34631800-34634600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr15:34632000-34634000	Weak transcription	Placenta	Placenta

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