Variant report

Variant	rs9288142
Chromosome Location	chr2:188388995-188388996
allele	A/C
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	MAFK	chr2:188388822-188389005	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:188387579-188389384	HepG2	liver:	n/a	n/a
3	HEY1	chr2:188387661-188389141	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:188388373-188389610	K562	blood:	n/a	n/a
5	IRF1	chr2:188388917-188389066	K562	blood:	n/a	n/a
6	POLR2A	chr2:188388844-188389171	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:188388921-188389055	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:188387495..188389336-chr2:188392022..188394869,2	MCF-7	breast:
2	chr2:188388573..188390742-chr2:188392127..188394969,3	K562	blood:

Variant related genes	Relation type
TFPI	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10153820	0.95[ASN][1000 genomes]
rs10177003	0.99[ASN][1000 genomes]
rs10185334	0.95[ASN][1000 genomes]
rs10191373	0.91[ASN][1000 genomes]
rs11902917	0.86[ASN][1000 genomes]
rs13411086	0.97[ASN][1000 genomes]
rs13425112	0.89[ASN][1000 genomes]
rs13427829	0.98[ASN][1000 genomes]
rs4366866	0.85[ASN][1000 genomes]
rs4643503	0.86[ASN][1000 genomes]
rs4666732	0.88[ASN][1000 genomes]
rs4666734	0.86[ASN][1000 genomes]
rs4667168	0.96[ASN][1000 genomes]
rs56141195	0.86[ASN][1000 genomes]
rs56170850	0.98[ASN][1000 genomes]
rs60452662	0.88[ASN][1000 genomes]
rs6434222	0.96[ASN][1000 genomes]
rs6434223	0.96[ASN][1000 genomes]
rs6715871	0.86[ASN][1000 genomes]
rs6749781	0.97[ASN][1000 genomes]
rs6756052	0.98[ASN][1000 genomes]
rs73052654	0.85[ASN][1000 genomes]
rs73052656	0.84[ASN][1000 genomes]
rs73982974	0.85[ASN][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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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:62 , 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	chr2:188381800-188406000	Weak transcription	Small Intestine	intestine
6	chr2:188381800-188406600	Weak transcription	Aorta	Aorta
7	chr2:188382600-188391600	Weak transcription	Ovary	ovary
8	chr2:188382800-188390800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:188383000-188392000	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:188383400-188389400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:188383400-188391200	Strong transcription	HSMM	muscle
12	chr2:188384400-188391200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:188384600-188391600	Weak transcription	Adipose Nuclei	Adipose
14	chr2:188384800-188391400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:188384800-188391600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:188385200-188389800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:188385200-188391400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:188385200-188397000	Weak transcription	Pancreas	Pancrea
19	chr2:188385200-188397200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:188385200-188397200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:188385200-188406000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:188385400-188389800	Weak transcription	A549	lung
23	chr2:188385400-188390000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:188385400-188390000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:188385400-188390200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:188385400-188390400	Weak transcription	NHLF	lung
27	chr2:188385400-188391000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:188385400-188391600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:188385400-188394000	Weak transcription	Placenta	Placenta
30	chr2:188385400-188396400	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:188385400-188397000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:188385400-188397000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:188385400-188397000	Weak transcription	Fetal Stomach	stomach
34	chr2:188385400-188397200	Weak transcription	Fetal Intestine Small	intestine
35	chr2:188385400-188397600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:188385800-188395200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:188385800-188397000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:188386000-188390600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:188386000-188394200	Weak transcription	K562	blood
40	chr2:188386200-188391600	Weak transcription	Fetal Lung	lung
41	chr2:188386600-188391000	Strong transcription	Primary hematopoietic stem cells	blood
42	chr2:188386800-188391400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:188387000-188397000	Weak transcription	Lung	lung
44	chr2:188387000-188406000	Weak transcription	Fetal Intestine Large	intestine
45	chr2:188387200-188389000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:188387200-188389600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:188387200-188389800	Weak transcription	Osteobl	bone
48	chr2:188387200-188391200	Weak transcription	Liver	Liver
49	chr2:188387200-188397000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:188387200-188398600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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