Variant report

Variant	rs553143605
Chromosome Location	chr12:124120147-124120148
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:124120069-124120506	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr12:124117702-124120166	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr12:124119976-124120217	K562	blood:	n/a	n/a
4	POLR2A	chr12:124120079-124120544	K562	blood:	n/a	n/a
5	POLR2A	chr12:124117681-124120549	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:124120101-124121119	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr12:124120126-124120582	K562	blood:	n/a	n/a
8	POLR2A	chr12:124119930-124120276	GM12878	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123753793..123756876-chr12:124117523..124121813,4	K562	blood:
2	chr12:124105722..124107597-chr12:124119086..124122015,4	K562	blood:
3	chr12:124116659..124120709-chr12:124455290..124460616,5	K562	blood:
4	chr12:123875063..123876805-chr12:124118427..124120711,2	K562	blood:
5	chr12:124118119..124120182-chr12:124196891..124198426,2	K562	blood:
6	chr12:123866683..123868660-chr12:124118535..124120956,2	K562	blood:
7	chr12:124084988..124092992-chr12:124114351..124121638,14	K562	blood:
8	chr12:124119318..124121767-chr12:124194183..124197056,2	MCF-7	breast:
9	chr1:183896810..183898310-chr12:124119036..124121731,2	K562	blood:
10	chr12:124117107..124120837-chr12:124123304..124127842,5	MCF-7	breast:
11	chr12:124116424..124121252-chr12:124194298..124198817,7	K562	blood:
12	chr12:123847883..123849879-chr12:124118467..124120545,3	K562	blood:
13	chr12:124119450..124122240-chr12:124131405..124134508,3	MCF-7	breast:

No data

Variant related genes	Relation type
EIF2B1	TF binding region
GTF2H3	TF binding region
ENSG00000139697	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000270095	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000178882	Chromatin interaction
ENSG00000185344	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000119242	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1042181	chr12:124037400-124152950	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1040356	chr12:124094758-124172731	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv2757517	chr12:124110122-124195856	Weak transcription Strong transcription Enhancers 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	22 gene(s)	inside rSNPs	diseases
7	esv2759918	chr12:124110122-124195856	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv1041918	chr12:124115035-124184855	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
9	nsv1042866	chr12:124115035-124195856	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv442292	chr12:124115047-124195854	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv35148	chr12:124119120-124196120	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	esv2756516	chr12:124119120-124196120	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv1053101	chr12:124119155-124172731	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
14	nsv524660	chr12:124119983-124194438	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv455733	chr12:124119983-124195856	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv560496	chr12:124119983-124195856	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124119200-124124400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:124119200-124129800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:124119200-124129800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:124119200-124130000	Weak transcription	Pancreas	Pancrea
5	chr12:124119200-124130200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:124119200-124130200	Weak transcription	Right Ventricle	heart
7	chr12:124119200-124141000	Weak transcription	Aorta	Aorta
8	chr12:124119200-124155200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:124119400-124123000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:124119400-124123800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:124119400-124124000	Weak transcription	Esophagus	oesophagus
12	chr12:124119400-124124400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:124119400-124124400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:124119400-124124600	Weak transcription	Fetal Intestine Large	intestine
15	chr12:124119400-124124600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:124119400-124127200	Weak transcription	Placenta	Placenta
17	chr12:124119400-124129600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:124119400-124129600	Weak transcription	HSMMtube	muscle
19	chr12:124119400-124129800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:124119400-124129800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:124119400-124129800	Weak transcription	Lung	lung
22	chr12:124119400-124129800	Weak transcription	Ovary	ovary
23	chr12:124119400-124130200	Weak transcription	Fetal Kidney	kidney
24	chr12:124119400-124130200	Weak transcription	Gastric	stomach
25	chr12:124119400-124131200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:124119400-124132000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:124119600-124120400	Enhancers	Brain Cingulate Gyrus	brain
28	chr12:124119600-124120400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr12:124119600-124121600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:124119600-124121800	Weak transcription	Fetal Stomach	stomach
31	chr12:124119600-124123000	Weak transcription	Fetal Intestine Small	intestine
32	chr12:124119600-124123200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:124119600-124123600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:124119600-124123800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:124119600-124124000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:124119600-124124000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:124119600-124124000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr12:124119600-124124000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr12:124119600-124124000	Weak transcription	Fetal Thymus	thymus
40	chr12:124119600-124124200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr12:124119600-124124200	Weak transcription	Fetal Brain Male	brain
42	chr12:124119600-124124400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:124119600-124124400	Weak transcription	Brain Substantia Nigra	brain
44	chr12:124119600-124124400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:124119600-124124400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr12:124119600-124124400	Weak transcription	Thymus	Thymus
47	chr12:124119600-124124600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:124119600-124125200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr12:124119600-124126200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:124119600-124126600	Weak transcription	Primary monocytes fromperipheralblood	blood

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