Variant report

Variant	rs202205404
Chromosome Location	chr19:21752212-21752213
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP2	chr19:21751984-21752264	K562	blood:	n/a	chr19:21752126-21752141
2	POLR2A	chr19:21751712-21752254	MCF-7	breast:	n/a	n/a
3	POLR2A	chr19:21751475-21752310	H1-hESC	embryonic stem cell:	n/a	n/a
4	ELF1	chr19:21751768-21752387	MCF-7	breast:	n/a	n/a
5	POU2F2	chr19:21751757-21752322	GM12891	blood:	n/a	n/a
6	ELF1	chr19:21751794-21752441	MCF-7	breast:	n/a	n/a
7	NFYB	chr19:21751859-21752289	K562	blood:	n/a	chr19:21752106-21752119 chr19:21752107-21752117 chr19:21752078-21752088 chr19:21752105-21752119
8	POLR2A	chr19:21751720-21752289	MCF-7	breast:	n/a	n/a
9	POLR2A	chr19:21751812-21752372	Raji	blood:	n/a	n/a
10	POLR2A	chr19:21751702-21752696	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr19:21752117-21752311	GM12891	blood:	n/a	n/a
12	POLR2A	chr19:21751812-21752423	GM12891	blood:	n/a	n/a
13	MAZ	chr19:21751797-21752330	IMR90	lung:	n/a	n/a
14	POLR2A	chr19:21751548-21752730	PBDE	blood:	n/a	n/a
15	GABPA	chr19:21751741-21752336	MCF-7	breast:	n/a	n/a
16	POLR2A	chr19:21752137-21752281	ProgFib	skin:	n/a	n/a
17	SP1	chr19:21751929-21752321	H1-hESC	embryonic stem cell:	n/a	chr19:21752127-21752136 chr19:21752128-21752137 chr19:21752127-21752141
18	CHD2	chr19:21752031-21752238	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr19:21751706-21752653	MCF-7	breast:	n/a	n/a
20	GABPA	chr19:21751655-21752522	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000268081	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv833782	chr19:21663537-21845722	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv2762028	chr19:21685778-21755476	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1059328	chr19:21691123-21775948	Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv543942	chr19:21711611-21767567	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv543943	chr19:21713945-21759080	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv543944	chr19:21713945-21767567	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv543945	chr19:21717518-21767567	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv963025	chr19:21742797-21754765	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
13	nsv828496	chr19:21745795-21766943	Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
14	nsv543946	chr19:21746555-21767567	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
15	nsv1056332	chr19:21746555-21807647	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv2760514	chr19:21746688-21766892	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
17	esv12116	chr19:21748700-21759143	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
18	nsv828497	chr19:21749200-21763258	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
19	nsv828499	chr19:21749342-21763258	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
20	nsv828500	chr19:21749342-21766517	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
21	nsv828501	chr19:21749342-21766548	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
22	nsv828502	chr19:21749342-21766943	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
23	nsv828503	chr19:21749342-21767506	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
24	nsv828504	chr19:21749342-21767591	Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
25	nsv828505	chr19:21749342-21770133	ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
26	nsv828506	chr19:21749826-21754934	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
27	nsv543947	chr19:21749857-21772586	Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
28	esv11151	chr19:21749930-21766243	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
29	esv12177	chr19:21750416-21755647	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
30	esv3450564	chr19:21750712-21758610	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
31	nsv578956	chr19:21751578-21753703	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
32	esv3384934	chr19:21751612-21758610	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
33	esv3395350	chr19:21751712-21756610	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
34	nsv578957	chr19:21751778-21754057	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
35	nsv578958	chr19:21751778-21755663	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
36	nsv578959	chr19:21751778-21757044	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
37	nsv578960	chr19:21751843-21754689	Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
38	nsv578961	chr19:21752009-21754918	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
39	nsv911422	chr19:21752009-21973929	ZNF genes & repeats Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
40	esv20264	chr19:21752064-21757994	ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21749800-21752800	Active TSS	Duodenum Mucosa	Duodenum
2	chr19:21750200-21752600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr19:21750400-21752800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
4	chr19:21750400-21752800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr19:21750400-21752800	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr19:21750400-21752800	Active TSS	Rectal Smooth Muscle	rectum
7	chr19:21750400-21752800	Active TSS	Right Ventricle	heart
8	chr19:21750400-21753200	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr19:21750600-21752800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:21750600-21752800	Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr19:21750800-21752400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:21750800-21752400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr19:21750800-21752800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:21750800-21752800	Active TSS	Primary T cells from cord blood	blood
15	chr19:21750800-21752800	Active TSS	Adipose Nuclei	Adipose
16	chr19:21750800-21752800	Active TSS	Fetal Lung	lung
17	chr19:21750800-21752800	Active TSS	Thymus	Thymus
18	chr19:21750800-21753200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:21751000-21752800	Active TSS	Brain Germinal Matrix	brain
20	chr19:21751000-21752800	Active TSS	Fetal Kidney	kidney
21	chr19:21751200-21752800	Active TSS	Fetal Intestine Small	intestine
22	chr19:21751200-21752800	Active TSS	Fetal Stomach	stomach
23	chr19:21751200-21752800	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr19:21751200-21753000	Active TSS	Stomach Smooth Muscle	stomach
25	chr19:21751400-21752600	Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr19:21751400-21752600	Active TSS	Primary hematopoietic stem cells	blood
27	chr19:21751400-21752600	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr19:21751400-21752600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr19:21751400-21752800	Active TSS	Muscle Satellite Cultured Cells	--
30	chr19:21751400-21752800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:21751400-21752800	ZNF genes & repeats	Fetal Brain Female	brain
32	chr19:21751400-21752800	Active TSS	Fetal Intestine Large	intestine
33	chr19:21751400-21752800	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr19:21751400-21752800	Active TSS	Fetal Muscle Trunk	muscle
35	chr19:21751400-21752800	Active TSS	HSMMtube	muscle
36	chr19:21751400-21752800	Active TSS	NHLF	lung
37	chr19:21751600-21752400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
38	chr19:21751600-21752400	Active TSS	Primary B cells from peripheral blood	blood
39	chr19:21751600-21752400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr19:21751600-21752400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:21751600-21752400	Active TSS	Brain Anterior Caudate	brain
42	chr19:21751600-21752400	Active TSS	Brain Cingulate Gyrus	brain
43	chr19:21751600-21752400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
44	chr19:21751600-21752400	ZNF genes & repeats	Right Atrium	heart
45	chr19:21751600-21752400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
46	chr19:21751600-21752400	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr19:21751600-21752600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:21751600-21752600	Active TSS	Primary B cells from cord blood	blood
49	chr19:21751600-21752600	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr19:21751600-21752600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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