Variant report

Variant	rs111271980
Chromosome Location	chr12:121078655-121078656
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	UBTF	chr12:121078204-121079517	K562	blood:	n/a	n/a
2	E2F6	chr12:121078138-121078675	K562	blood:	n/a	chr12:121078441-121078451
3	POLR2A	chr12:121078576-121079212	H1-neurons	neurons:	n/a	n/a
4	REST	chr12:121078625-121079761	HL-60	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
5	REST	chr12:121078611-121080060	HL-60	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
6	UBTF	chr12:121078266-121079514	K562	blood:	n/a	n/a
7	SIN3A	chr12:121077666-121079638	H1-hESC	embryonic stem cell:	n/a	chr12:121078405-121078418 chr12:121079275-121079288
8	CCNT2	chr12:121078132-121079332	K562	blood:	n/a	n/a
9	HMGN3	chr12:121078158-121079444	K562	blood:	n/a	n/a
10	REST	chr12:121078153-121078772	K562	blood:	n/a	n/a
11	ZNF263	chr12:121077610-121079764	HEK293-T-REx	kidney:	n/a	chr12:121079219-121079228 chr12:121079301-121079310
12	ZNF263	chr12:121078533-121079509	K562	blood:	n/a	chr12:121079219-121079228 chr12:121079301-121079310
13	CTCF	chr12:121078631-121079141	K562	blood:	n/a	n/a
14	REST	chr12:121078204-121079915	ECC-1	luminal epithelium:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347

No.	Distal block	Cell Line	Cell type
1	chr12:121077855..121079516-chr12:121124357..121126482,2	MCF-7	breast:
2	chr12:121074234..121078810-chr12:121086912..121091656,5	K562	blood:
3	chr12:121077883..121078713-chr12:121409304..121410103,2	MCF-7	breast:
4	chr12:121019025..121020943-chr12:121076838..121078875,3	K562	blood:

Variant related genes	Relation type
ENSG00000256008	TF binding region
ENSG00000272214	Chromatin interaction
ENSG00000157782	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000110917	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv3346909	chr12:121077394-121079942	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3334570	chr12:121077719-121079967	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121077600-121079600	Active TSS	H9 Cell Line	embryonic stem cell
2	chr12:121077600-121079600	Active TSS	Brain Angular Gyrus	brain
3	chr12:121077800-121079000	Bivalent/Poised TSS	Colonic Mucosa	Colon
4	chr12:121077800-121079200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:121077800-121079200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr12:121077800-121079400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr12:121077800-121079400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
8	chr12:121077800-121079600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:121077800-121079600	Flanking Bivalent TSS/Enh	Thymus	Thymus
10	chr12:121078000-121078800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
11	chr12:121078000-121079000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:121078000-121079000	Active TSS	Psoas Muscle	Psoas
13	chr12:121078000-121079000	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr12:121078000-121079200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:121078000-121079200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:121078000-121079200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:121078000-121079200	Active TSS	Pancreas	Pancrea
18	chr12:121078000-121079400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:121078000-121079400	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr12:121078000-121079400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr12:121078000-121079400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr12:121078000-121079400	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr12:121078000-121079400	Active TSS	Rectal Smooth Muscle	rectum
24	chr12:121078000-121079400	Active TSS	Right Atrium	heart
25	chr12:121078000-121079400	Bivalent/Poised TSS	NHEK	skin
26	chr12:121078000-121079600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:121078000-121079800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr12:121078200-121078800	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:121078200-121078800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:121078200-121078800	Weak transcription	Gastric	stomach
31	chr12:121078200-121079000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:121078200-121079000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:121078200-121079000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:121078200-121079000	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr12:121078200-121079000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr12:121078200-121079000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:121078200-121079000	Weak transcription	Brain Anterior Caudate	brain
38	chr12:121078200-121079000	Active TSS	Brain Cingulate Gyrus	brain
39	chr12:121078200-121079000	Active TSS	Esophagus	oesophagus
40	chr12:121078200-121079000	Active TSS	Left Ventricle	heart
41	chr12:121078200-121079000	Active TSS	Ovary	ovary
42	chr12:121078200-121079000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
43	chr12:121078200-121079000	Active TSS	K562	blood
44	chr12:121078200-121079200	Active TSS	H1 Cell Line	embryonic stem cell
45	chr12:121078200-121079200	Enhancers	Primary B cells from cord blood	blood
46	chr12:121078200-121079200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:121078200-121079200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:121078200-121079200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
49	chr12:121078200-121079200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
50	chr12:121078200-121079200	Active TSS	A549	lung

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