Variant report

Variant	rs1919364
Chromosome Location	chr15:33009574-33009575
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr15:33009436-33011874	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr15:33009534-33009997	A549	lung:	n/a	n/a
3	MAX	chr15:33009535-33011795	A549	lung:	n/a	n/a
4	POLR2A	chr15:33007578-33017851	IMR90	lung:	n/a	n/a
5	MAX	chr15:33009534-33010062	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAZ	chr15:33009340-33012500	IMR90	lung:	n/a	n/a
7	E2F6	chr15:33009486-33010899	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr15:33009373-33010996	H1-hESC	embryonic stem cell:	n/a	n/a
9	SUZ12	chr15:33009144-33011978	NT2-D1	testis:	n/a	n/a
10	CHD1	chr15:33007205-33016414	IMR90	lung:	n/a	chr15:33010001-33010011 chr15:33009561-33009571
11	SIN3A	chr15:33009491-33011723	H1-hESC	embryonic stem cell:	n/a	chr15:33010657-33010666 chr15:33011623-33011631 chr15:33010996-33011009 chr15:33009639-33009652 chr15:33011149-33011162 chr15:33010674-33010683
12	RAD21	chr15:33009504-33012205	IMR90	lung:	n/a	chr15:33011533-33011547 chr15:33009596-33009610 chr15:33010670-33010684 chr15:33010657-33010671
13	POLR2A	chr15:33009287-33010047	H1-neurons	neurons:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:33009531-33009581	HUVEC	blood vessel:	n/a
2	chr15:33009531-33009581	PFSK-1	brain:	n/a
3	chr15:33009531-33009581	K562	blood:	n/a
4	chr15:33009531-33009581	NB4	blood:	n/a
5	chr15:33009531-33009581	H1-hESC	embryonic stem cell:	embryo
6	chr15:33009531-33009581	HIPEpiC	eye:	n/a
7	chr15:33009531-33009581	Jurkat	blood:	n/a
8	chr15:33009531-33009581	ProgFib	skin:	n/a
9	chr15:33009531-33009581	HL-60	blood:	n/a
10	chr15:33009531-33009581	HCF	heart:	n/a
11	chr15:33009531-33009581	SAEC	small airway:	n/a
12	chr15:33009531-33009581	T-47D	breast:	n/a
13	chr15:33009531-33009581	ovcar-3	ovarian:	n/a
14	chr15:33009531-33009581	CMK	blood:	n/a
15	chr15:33009531-33009581	SK-N-SH	brain:	n/a
16	chr15:33009531-33009581	GM06990	blood:	n/a
17	chr15:33009531-33009581	HRPEpiC	eye:	n/a
18	chr15:33009531-33009581	HNPCEpiC	eye:	n/a
19	chr15:33009531-33009581	AoSMC	blood vessel:	n/a
20	chr15:33009531-33009581	AG04449	skin:	fetal
21	chr15:33009531-33009581	HEK293	kidney:	embryo
22	chr15:33009531-33009581	A549	lung:	n/a
23	chr15:33009531-33009581	AG09319	gingival:	n/a
24	chr15:33009531-33009581	ECC-1	luminal epithelium:	n/a
25	chr15:33009531-33009581	HPAEpiC	pulmonary alveolar:	n/a
26	chr15:33009531-33009581	IMR90	lung:	fetal
27	chr15:33009531-33009581	Hepatocyte	liver:	n/a
28	chr15:33009531-33009581	SK-N-MC	brain:	n/a
29	chr15:33009531-33009581	HepG2	liver:	n/a
30	chr15:33009531-33009581	SK-N-SH_RA	brain:	n/a
31	chr15:33009531-33009581	HRCEpiC	kidney:	n/a
32	chr15:33009531-33009581	U87	brain:	n/a
33	chr15:33009531-33009581	NT2-D1	testis:	n/a
34	chr15:33009531-33009581	MCF10A-Er-Src	breast:	n/a
35	chr15:33009531-33009581	MCF-7	breast:	n/a
36	chr15:33009531-33009581	HRE	kidney:	n/a
37	chr15:33009531-33009581	AG09309	skin:	n/a
38	chr15:33009531-33009581	NHDF-neo	bronchial:	n/a
39	chr15:33009531-33009581	HEEpiC	esophagus:	n/a
40	chr15:33009531-33009581	SKMC	muscle:	n/a
41	chr15:33009531-33009581	Hela-S3	cervix:	n/a
42	chr15:33009531-33009581	PANC-1	pancreas:	n/a
43	chr15:33009531-33009581	HAEpiC	amniotic membrane:	n/a
44	chr15:33009531-33009581	BE2_C	brain:	n/a
45	chr15:33009531-33009581	LNCaP	prostate:	n/a
46	chr15:33009531-33009581	GM19239	blood:	n/a
47	chr15:33009531-33009581	GM12878	blood:	n/a
48	chr15:33009531-33009581	HCT-116	colon:	n/a
49	chr15:33009531-33009581	GM12892	blood:	n/a
50	chr15:33009531-33009581	AG04450	lung:	fetal

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FMN1-1	chr15:33009471-33011208	ENSG00000259721.1

No data

Variant related genes	Relation type
GREM1	TF binding region
GREM1	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11632715	0.82[EUR][1000 genomes]
rs11635984	1.00[ASN][1000 genomes]
rs11638007	0.91[ASN][1000 genomes]
rs1534594	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7497354	0.96[ASN][1000 genomes]

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	esv2422296	chr15:32798938-33221215	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv456785	chr15:32926076-33352989	Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv568913	chr15:32926076-33352989	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv482680	chr15:32958401-33154005	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv456787	chr15:32968923-33023951	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv568916	chr15:32968923-33023951	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33008400-33012600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
2	chr15:33008600-33009600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
3	chr15:33008600-33009600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr15:33008600-33010600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
5	chr15:33008600-33011800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr15:33008800-33009600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
7	chr15:33008800-33009600	Flanking Bivalent TSS/Enh	NH-A	brain
8	chr15:33008800-33009800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr15:33008800-33011600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
10	chr15:33008800-33012000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
11	chr15:33008800-33012000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
12	chr15:33008800-33012200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
13	chr15:33008800-33012600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr15:33009000-33009600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
15	chr15:33009000-33009600	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
16	chr15:33009000-33009800	Bivalent Enhancer	Adipose Nuclei	Adipose
17	chr15:33009000-33009800	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr15:33009000-33010000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
19	chr15:33009000-33010000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:33009000-33010000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
21	chr15:33009000-33010200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
22	chr15:33009000-33010600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
23	chr15:33009000-33011800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:33009000-33012000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr15:33009000-33012000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
26	chr15:33009000-33012000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
27	chr15:33009000-33012200	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr15:33009000-33013000	Bivalent/Poised TSS	NHLF	lung
29	chr15:33009200-33009600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:33009200-33009600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:33009200-33009600	Bivalent Enhancer	Fetal Brain Female	brain
32	chr15:33009200-33009600	Bivalent Enhancer	Fetal Stomach	stomach
33	chr15:33009200-33009600	Bivalent Enhancer	HUVEC	blood vessel
34	chr15:33009200-33009600	Flanking Active TSS	Osteobl	bone
35	chr15:33009200-33009800	Bivalent Enhancer	Fetal Intestine Small	intestine
36	chr15:33009200-33009800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
37	chr15:33009200-33010000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
38	chr15:33009200-33010200	Bivalent/Poised TSS	Right Ventricle	heart
39	chr15:33009200-33010400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:33009200-33010600	Bivalent Enhancer	Stomach Mucosa	stomach
41	chr15:33009200-33011400	Bivalent/Poised TSS	Psoas Muscle	Psoas
42	chr15:33009200-33011600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
43	chr15:33009200-33012000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr15:33009200-33012200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr15:33009200-33012200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:33009400-33009600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr15:33009400-33009600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr15:33009400-33009600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr15:33009400-33009600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
50	chr15:33009400-33009600	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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