Variant report

Variant	rs28362921
Chromosome Location	chr15:74706565-74706566
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:74702401-74714587	U87	brain:	n/a	n/a
2	POLR2A	chr15:74698747-74718413	GM18505	blood:	n/a	n/a
3	POLR2A	chr15:74705107-74713921	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:74705339-74712358	GM19193	blood:	n/a	n/a
5	POLR2A	chr15:74706399-74706759	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:74705261-74716689	GM18951	blood:	n/a	n/a
7	POLR2A	chr15:74706398-74707159	HepG2	liver:	n/a	n/a
8	POLR2A	chr15:74705345-74709768	GM12892	blood:	n/a	n/a
9	STAT5A	chr15:74705979-74709099	GM12878	blood:	n/a	chr15:74706024-74706032 chr15:74706731-74706743
10	POLR2A	chr15:74705482-74708070	GM19099	blood:	n/a	n/a
11	POLR2A	chr15:74705198-74706814	GM12878	blood:	n/a	n/a
12	POLR2A	chr15:74705128-74710349	GM12878	blood:	n/a	n/a
13	PML	chr15:74706445-74706966	GM12878	blood:	n/a	n/a
14	POLR2A	chr15:74705142-74707459	GM12892	blood:	n/a	n/a
15	POLR2A	chr15:74702282-74710077	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:74706331-74706798	GM12892	blood:	n/a	n/a
17	POLR2A	chr15:74697925-74718369	GM12891	blood:	n/a	n/a
18	POLR2A	chr15:74705093-74708242	GM12892	blood:	n/a	n/a
19	POLR2A	chr15:74698793-74725579	GM12878	blood:	n/a	n/a
20	POLR2A	chr15:74705167-74718408	GM12892	blood:	n/a	n/a
21	POLR2A	chr15:74705767-74706848	GM12878	blood:	n/a	n/a
22	POLR2A	chr15:74705256-74714581	U87	brain:	n/a	n/a
23	POLR2A	chr15:74706166-74706631	GM12891	blood:	n/a	n/a
24	POLR2A	chr15:74706499-74708093	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74689624..74691251-chr15:74705543..74707714,2	K562	blood:
2	chr15:74706547..74708360-chr15:74715336..74717632,2	K562	blood:
3	chr15:74689719..74694435-chr15:74706184..74713253,9	MCF-7	breast:
4	chr15:74706143..74707711-chr15:74709343..74712295,2	K562	blood:
5	chr15:74705741..74707639-chr15:74724712..74726448,2	K562	blood:

No data

Variant related genes	Relation type
SEMA7A	TF binding region
ENSG00000138623	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1046146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11854442	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2075591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2075592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2075593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2075594	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28362924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59855391	0.82[ASN][1000 genomes]
rs7182869	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428641	chr15:74555113-74724630	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482615	chr15:74593625-74757962	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription 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	58 gene(s)	inside rSNPs	diseases
3	nsv904352	chr15:74638965-74715205	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	nsv904353	chr15:74697084-74716609	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv904354	chr15:74697084-74722924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv904355	chr15:74697084-74728149	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
7	nsv904356	chr15:74697084-74729603	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription 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 miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv569974	chr15:74701200-74727113	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74696200-74710400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:74696200-74711400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr15:74696200-74712600	Weak transcription	Right Atrium	heart
4	chr15:74696400-74707000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr15:74696400-74712200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr15:74696800-74709400	Weak transcription	Left Ventricle	heart
7	chr15:74697000-74712400	Weak transcription	Fetal Heart	heart
8	chr15:74697000-74712600	Weak transcription	Fetal Lung	lung
9	chr15:74699600-74716600	Weak transcription	Fetal Kidney	kidney
10	chr15:74700000-74713800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr15:74700200-74707000	Weak transcription	Esophagus	oesophagus
12	chr15:74700200-74707400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:74700200-74708400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:74700200-74708400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr15:74700200-74711200	Weak transcription	Fetal Intestine Large	intestine
16	chr15:74700400-74708000	Genic enhancers	HSMM	muscle
17	chr15:74700400-74710800	Weak transcription	Ovary	ovary
18	chr15:74700600-74712200	Weak transcription	Fetal Brain Male	brain
19	chr15:74700800-74712400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr15:74701000-74708000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr15:74701000-74708400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:74701200-74706800	Strong transcription	Thymus	Thymus
23	chr15:74701200-74714600	Genic enhancers	Spleen	Spleen
24	chr15:74701400-74706800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr15:74701400-74712600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:74701600-74706600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr15:74701600-74706800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr15:74701600-74707200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr15:74701600-74707600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr15:74701600-74709200	Strong transcription	NHLF	lung
31	chr15:74701600-74709600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:74701800-74707800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:74701800-74708000	Strong transcription	HMEC	breast
34	chr15:74702000-74710800	Strong transcription	Brain Germinal Matrix	brain
35	chr15:74702000-74712400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr15:74702200-74710800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:74702200-74710800	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr15:74702200-74715000	Weak transcription	Colonic Mucosa	Colon
39	chr15:74702400-74706600	Strong transcription	Osteobl	bone
40	chr15:74702400-74707000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:74702400-74707000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr15:74702400-74707200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr15:74702400-74707600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr15:74702400-74708600	Weak transcription	Right Ventricle	heart
45	chr15:74702400-74709200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr15:74702400-74710400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr15:74702400-74711000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr15:74702400-74711200	Strong transcription	Fetal Stomach	stomach
49	chr15:74702600-74710400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr15:74702600-74711000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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