Variant report

Variant	rs546896577
Chromosome Location	chr2:188384978-188384979
allele	C/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	POLR2A	chr2:188384821-188385368	K562	blood:	n/a	n/a
2	POLR2A	chr2:188383798-188385381	HepG2	liver:	n/a	n/a
3	YY1	chr2:188384539-188385378	NT2-D1	testis:	n/a	n/a
4	POLR2A	chr2:188378186-188386262	K562	blood:	n/a	n/a
5	POLR2A	chr2:188383898-188385883	A549	lung:	n/a	n/a
6	POLR2A	chr2:188384868-188385244	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr2:188384619-188385162	K562	blood:	n/a	n/a
8	POLR2A	chr2:188383989-188385375	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr2:188378523-188385446	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:188383986-188385252	K562	blood:	n/a	n/a
11	TEAD4	chr2:188384525-188385093	H1-hESC	embryonic stem cell:	n/a	n/a
12	HEY1	chr2:188374386-188385783	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:188384034-188385999	HepG2	liver:	n/a	n/a
14	POLR2A	chr2:188378082-188387449	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:188384187-188385418	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
TFPI	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875558	chr2:188219052-188388311	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats 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 target site	4 gene(s)	inside rSNPs	diseases
2	nsv875559	chr2:188219052-188390112	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv875563	chr2:188258904-188388311	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers 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	4 gene(s)	inside rSNPs	diseases
6	nsv875564	chr2:188258904-188414161	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv875565	chr2:188258904-188440752	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS 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	4 gene(s)	inside rSNPs	diseases
8	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv834488	chr2:188268434-188415496	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv875568	chr2:188291105-188653806	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv875576	chr2:188343497-188482933	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv875577	chr2:188343497-188500930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv875578	chr2:188343497-188690187	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv997899	chr2:188356689-188531831	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1014298	chr2:188359747-188531831	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1013166	chr2:188359747-188544803	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv1014942	chr2:188360116-188480738	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv584038	chr2:188370232-188450136	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv875580	chr2:188370232-188521234	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	esv2757845	chr2:188380042-188503185	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	esv2759108	chr2:188380042-188503185	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	esv3501345	chr2:188382857-188390955	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	esv3501344	chr2:188383607-188390855	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	esv3528447	chr2:188384051-188389890	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	esv3459916	chr2:188384081-188390077	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	esv3459917	chr2:188384081-188390077	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	esv13703	chr2:188384126-188389392	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	esv3501346	chr2:188384200-188389852	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
30	esv3501340	chr2:188384213-188389848	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
31	esv3501342	chr2:188384248-188389821	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
32	esv3501343	chr2:188384300-188389776	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
33	esv3501347	chr2:188384304-188389774	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
34	esv3528448	chr2:188384304-188389774	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188360600-188391600	Weak transcription	Psoas Muscle	Psoas
2	chr2:188370000-188389800	Weak transcription	NHDF-Ad	bronchial
3	chr2:188370400-188390000	Weak transcription	Hela-S3	cervix
4	chr2:188375200-188400000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:188376000-188385000	Weak transcription	Gastric	stomach
6	chr2:188378600-188387400	Genic enhancers	HepG2	liver
7	chr2:188380800-188385400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:188381600-188388200	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr2:188381800-188385000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:188381800-188406000	Weak transcription	Small Intestine	intestine
11	chr2:188381800-188406600	Weak transcription	Aorta	Aorta
12	chr2:188382600-188391600	Weak transcription	Ovary	ovary
13	chr2:188382800-188390800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:188383000-188392000	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:188383200-188385400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:188383200-188386000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:188383400-188385400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr2:188383400-188385800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:188383400-188387200	Strong transcription	HSMMtube	muscle
20	chr2:188383400-188389400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:188383400-188391200	Strong transcription	HSMM	muscle
22	chr2:188383600-188385400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:188383600-188385400	Strong transcription	A549	lung
24	chr2:188383800-188385200	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr2:188383800-188385400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:188383800-188385400	ZNF genes & repeats	Fetal Stomach	stomach
27	chr2:188383800-188387200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:188383800-188387200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:188383800-188387200	Strong transcription	Liver	Liver
30	chr2:188383800-188387200	Strong transcription	Osteobl	bone
31	chr2:188384000-188385000	ZNF genes & repeats	Fetal Intestine Large	intestine
32	chr2:188384000-188385200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:188384000-188385200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:188384000-188385200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr2:188384000-188385200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr2:188384000-188385200	ZNF genes & repeats	Lung	lung
37	chr2:188384000-188385200	ZNF genes & repeats	Pancreas	Pancrea
38	chr2:188384000-188385200	ZNF genes & repeats	Right Ventricle	heart
39	chr2:188384000-188385200	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:188384000-188385400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:188384000-188385400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:188384000-188385400	ZNF genes & repeats	Fetal Muscle Leg	muscle
43	chr2:188384000-188385400	ZNF genes & repeats	Placenta	Placenta
44	chr2:188384000-188385400	Strong transcription	NHLF	lung
45	chr2:188384000-188386000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:188384000-188387400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:188384000-188388200	Strong transcription	HUVEC	blood vessel
48	chr2:188384200-188385000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr2:188384200-188385200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr2:188384200-188385200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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