Variant report

Variant	rs377651178
Chromosome Location	chr12:124123007-124123008
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	chr12:124122686-124123033	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:124122926-124123259	K562	blood:	n/a	n/a
3	POLR2A	chr12:124122955-124123291	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124084914..124087862-chr12:124122413..124125179,2	K562	blood:

Variant related genes	Relation type
EIF2B1	TF binding region
GTF2H3	TF binding region
ENSG00000111364	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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
17	nsv1040119	chr12:124122376-124152950	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
18	nsv1036843	chr12:124122376-124169697	Weak transcription Strong transcription Active TSS Enhancers Flanking 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	7 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	chr12:124119400-124123800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:124119400-124124000	Weak transcription	Esophagus	oesophagus
11	chr12:124119400-124124400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:124119400-124124400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:124119400-124124600	Weak transcription	Fetal Intestine Large	intestine
14	chr12:124119400-124124600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:124119400-124127200	Weak transcription	Placenta	Placenta
16	chr12:124119400-124129600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:124119400-124129600	Weak transcription	HSMMtube	muscle
18	chr12:124119400-124129800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:124119400-124129800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:124119400-124129800	Weak transcription	Lung	lung
21	chr12:124119400-124129800	Weak transcription	Ovary	ovary
22	chr12:124119400-124130200	Weak transcription	Fetal Kidney	kidney
23	chr12:124119400-124130200	Weak transcription	Gastric	stomach
24	chr12:124119400-124131200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:124119400-124132000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:124119600-124123200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:124119600-124123600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:124119600-124123800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:124119600-124124000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:124119600-124124000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:124119600-124124000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr12:124119600-124124000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:124119600-124124000	Weak transcription	Fetal Thymus	thymus
34	chr12:124119600-124124200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr12:124119600-124124200	Weak transcription	Fetal Brain Male	brain
36	chr12:124119600-124124400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:124119600-124124400	Weak transcription	Brain Substantia Nigra	brain
38	chr12:124119600-124124400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:124119600-124124400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:124119600-124124400	Weak transcription	Thymus	Thymus
41	chr12:124119600-124124600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:124119600-124125200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr12:124119600-124126200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:124119600-124126600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr12:124119600-124126600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr12:124119600-124126600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:124119600-124126800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:124119600-124126800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:124119600-124126800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:124119600-124127000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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