Variant report

Variant	rs550790650
Chromosome Location	chr12:31159044-31159045
allele	C/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	PRDM1	chr12:31159005-31159250	Hela-S3	cervix:	n/a	n/a
2	RFX5	chr12:31159006-31159206	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr12:31158840-31159211	Hela-S3	cervix:	n/a	n/a
4	STAT3	chr12:31158877-31159138	MCF10A-Er-Src	breast:	n/a	chr12:31158971-31158983 chr12:31158976-31158984
5	ZNF143	chr12:31158857-31159267	Hela-S3	cervix:	n/a	n/a
6	GTF2F1	chr12:31159015-31159204	Hela-S3	cervix:	n/a	n/a
7	RCOR1	chr12:31159001-31159354	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr12:31158720-31159401	Hela-S3	cervix:	n/a	n/a
9	GABPA	chr12:31158784-31159118	A549	lung:	n/a	n/a
10	SMC3	chr12:31158816-31159077	Hela-S3	cervix:	n/a	chr12:31159064-31159071
11	NR3C1	chr12:31158757-31159292	A549	lung:	n/a	chr12:31159168-31159177 chr12:31158968-31158981
12	NR3C1	chr12:31158867-31159117	A549	lung:	n/a	chr12:31158968-31158981
13	GABPA	chr12:31158778-31159215	A549	lung:	n/a	n/a
14	POLR2A	chr12:31158913-31159259	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr12:31158861-31159370	U87	brain:	n/a	n/a
16	GABPA	chr12:31158844-31159113	Hela-S3	cervix:	n/a	n/a
17	RUNX3	chr12:31158912-31159197	GM12878	blood:	n/a	n/a
18	MAX	chr12:31158787-31159563	A549	lung:	n/a	n/a
19	FOS	chr12:31159031-31159231	MCF10A-Er-Src	breast:	n/a	chr12:31159168-31159178 chr12:31159169-31159177 chr12:31159170-31159181 chr12:31159167-31159178 chr12:31159168-31159178
20	TBP	chr12:31158887-31159257	Hela-S3	cervix:	n/a	n/a
21	GABPA	chr12:31158770-31159202	Hela-S3	cervix:	n/a	n/a
22	EP300	chr12:31159026-31159140	Hela-S3	cervix:	n/a	n/a
23	ZKSCAN1	chr12:31158999-31159311	Hela-S3	cervix:	n/a	n/a
24	MAX	chr12:31158823-31159311	Hela-S3	cervix:	n/a	n/a
25	MAZ	chr12:31158767-31159242	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000226472	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052957	chr12:30951520-31191197	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541439	chr12:30951520-31191197	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1052869	chr12:30951520-31399162	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv2422447	chr12:30954811-31449815	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv558030	chr12:30969675-31266287	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
7	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
8	esv2422366	chr12:31071959-31276836	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv541441	chr12:31080091-31399162	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1038745	chr12:31087757-31305190	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv427906	chr12:31095869-31361902	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	esv2422323	chr12:31103190-31275170	Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv2422496	chr12:31103190-31275170	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	esv2422264	chr12:31103190-31345995	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv1043203	chr12:31115114-31165130	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1049505	chr12:31115346-31171300	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv2758303	chr12:31125467-31491104	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
18	esv2759890	chr12:31125467-31491104	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
19	nsv428276	chr12:31125467-31491104	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
20	esv2422254	chr12:31128132-31326508	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
21	nsv1047264	chr12:31128606-31171300	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	nsv430467	chr12:31148662-31410284	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
23	esv2751043	chr12:31148662-31499671	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
24	nsv524633	chr12:31158519-31162614	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31142200-31160600	Weak transcription	Fetal Brain Female	brain
2	chr12:31147200-31185000	Weak transcription	Right Atrium	heart
3	chr12:31156400-31161000	Enhancers	HSMMtube	muscle
4	chr12:31156800-31164000	Weak transcription	Fetal Thymus	thymus
5	chr12:31157800-31160000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr12:31157800-31160400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:31158200-31159200	Flanking Active TSS	Hela-S3	cervix
8	chr12:31158200-31159400	Enhancers	HMEC	breast
9	chr12:31158200-31159600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:31158200-31159600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:31158400-31159200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr12:31158400-31159400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:31158400-31159400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:31158400-31159600	Enhancers	A549	lung
15	chr12:31158400-31161200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:31158400-31174600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:31158600-31159200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:31158600-31159400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:31158600-31159400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr12:31158600-31159400	Enhancers	Lung	lung
21	chr12:31158600-31159400	Enhancers	Osteobl	bone
22	chr12:31158600-31159600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:31158800-31159200	Enhancers	Esophagus	oesophagus
24	chr12:31158800-31159200	Bivalent Enhancer	Placenta	Placenta
25	chr12:31158800-31159200	Enhancers	Left Ventricle	heart
26	chr12:31158800-31159200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr12:31158800-31159200	Enhancers	Stomach Mucosa	stomach
28	chr12:31158800-31159200	Enhancers	NHDF-Ad	bronchial
29	chr12:31158800-31159400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:31158800-31159400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:31158800-31159400	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr12:31158800-31159400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr12:31158800-31159400	Enhancers	NHEK	skin
34	chr12:31158800-31159600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:31158800-31159600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr12:31158800-31160000	Enhancers	Spleen	Spleen
37	chr12:31158800-31162600	Enhancers	Fetal Muscle Trunk	muscle
38	chr12:31159000-31159200	Enhancers	Colonic Mucosa	Colon
39	chr12:31159000-31161200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:31159000-31161200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:31159000-31161600	Enhancers	HSMM	muscle

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