Variant report

Variant	rs1122090
Chromosome Location	chr15:33197411-33197412
allele	A/G
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	CEBPB	chr15:33197305-33197615	HepG2	liver:	n/a	chr15:33197414-33197427 chr15:33197414-33197427
2	CEBPB	chr15:33197348-33197548	A549	lung:	n/a	chr15:33197414-33197427 chr15:33197414-33197427
3	POLR2A	chr15:33197298-33197582	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:33177002..33179276-chr15:33196689..33199398,2	K562	blood:

Variant related genes	Relation type
FMN1	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10519763	0.91[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519766	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11852876	0.91[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.93[ASN][1000 genomes]
rs11855526	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[ASN][1000 genomes]
rs12912842	1.00[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12916094	0.92[CHB][hapmap]
rs1450116	0.90[ASN][1000 genomes]
rs16960803	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16960807	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs16961044	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16961154	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16961611	0.91[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.93[ASN][1000 genomes]
rs2034478	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2034479	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2034609	0.98[ASN][1000 genomes]
rs2339165	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs28393295	1.00[ASN][1000 genomes]
rs28415939	0.98[ASN][1000 genomes]
rs28453761	1.00[ASN][1000 genomes]
rs28719161	1.00[ASN][1000 genomes]
rs28735093	0.83[ASN][1000 genomes]
rs3812936	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3829481	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs41473744	0.91[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.93[ASN][1000 genomes]
rs57814724	0.83[ASN][1000 genomes]
rs66965190	0.98[ASN][1000 genomes]
rs7182893	0.82[CHB][hapmap]
rs72719309	1.00[ASN][1000 genomes]
rs72719318	1.00[ASN][1000 genomes]
rs72719330	1.00[ASN][1000 genomes]
rs72719333	1.00[ASN][1000 genomes]
rs72719337	1.00[ASN][1000 genomes]
rs72719339	0.93[ASN][1000 genomes]
rs8026200	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027369	0.89[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv832962	chr15:33111517-33239736	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv903978	chr15:33144202-33308641	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv903979	chr15:33144202-33550256	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1041609	chr15:33148035-33355999	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv542339	chr15:33148035-33355999	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv903980	chr15:33149087-33264201	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1052966	chr15:33149753-33541951	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv542340	chr15:33149753-33541951	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv568917	chr15:33167171-33304172	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33149000-33202000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr15:33154400-33216800	Weak transcription	Fetal Thymus	thymus
3	chr15:33155000-33208200	Weak transcription	Fetal Kidney	kidney
4	chr15:33160000-33201800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:33162200-33202400	Weak transcription	Gastric	stomach
6	chr15:33166000-33202400	Weak transcription	Pancreas	Pancrea
7	chr15:33166200-33211800	Weak transcription	HSMMtube	muscle
8	chr15:33170800-33200400	Weak transcription	NH-A	brain
9	chr15:33178800-33197600	Weak transcription	Osteobl	bone
10	chr15:33179000-33198000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr15:33181800-33198800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:33181800-33201000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:33182000-33200600	Weak transcription	Fetal Stomach	stomach
14	chr15:33191000-33201000	Weak transcription	Esophagus	oesophagus
15	chr15:33191000-33210800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr15:33191600-33197600	Weak transcription	Lung	lung
17	chr15:33191800-33200000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:33191800-33214600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr15:33192000-33197600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:33192000-33200000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:33192400-33197600	Weak transcription	Thymus	Thymus
22	chr15:33192400-33201400	Weak transcription	HSMM	muscle
23	chr15:33192400-33210600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:33192600-33197600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr15:33192600-33210800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:33193000-33197600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:33193000-33200400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr15:33194600-33200400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr15:33194800-33200200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr15:33195000-33200200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr15:33195000-33215000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr15:33195200-33200200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr15:33195200-33200200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr15:33195400-33200200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr15:33195800-33197600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:33196200-33198200	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr15:33196600-33197600	Strong transcription	Placenta	Placenta
38	chr15:33196800-33200200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr15:33197000-33198000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr15:33197000-33199200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr15:33197000-33199600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr15:33197200-33197600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr15:33197200-33198400	Strong transcription	NHLF	lung
44	chr15:33197200-33199200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr15:33197200-33199400	Weak transcription	Primary B cells from cord blood	blood
46	chr15:33197400-33198200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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