Variant report

Variant	rs532302030
Chromosome Location	chr12:121078887-121078888
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	REST	chr12:121078777-121079691	SK-N-SH	brain:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
2	UBTF	chr12:121078204-121079517	K562	blood:	n/a	n/a
3	REST	chr12:121078777-121079702	K562	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
4	REST	chr12:121078658-121079592	H1-hESC	embryonic stem cell:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
5	MAX	chr12:121078761-121079586	K562	blood:	n/a	n/a
6	REST	chr12:121078753-121079664	GM12878	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
7	REST	chr12:121078878-121079639	GM12878	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
8	POLR2A	chr12:121078750-121079311	H1-neurons	neurons:	n/a	n/a
9	CTCF	chr12:121078840-121078990	GM12874	blood:	n/a	n/a
10	REST	chr12:121078872-121079772	MCF-7	breast:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
11	E2F6	chr12:121078787-121079083	K562	blood:	n/a	n/a
12	CTCF	chr12:121078859-121078981	GM19238	blood:	n/a	n/a
13	RAD21	chr12:121078833-121079001	K562	blood:	n/a	n/a
14	REST	chr12:121078858-121079490	GM12878	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
15	CTCF	chr12:121078774-121079100	K562	blood:	n/a	n/a
16	MXI1	chr12:121078791-121080242	IMR90	lung:	n/a	n/a
17	CTCF	chr12:121078800-121078950	GM12875	blood:	n/a	n/a
18	CTCF	chr12:121078800-121078950	GM12874	blood:	n/a	n/a
19	PAX5	chr12:121078771-121079310	GM12892	blood:	n/a	n/a
20	POLR2A	chr12:121078576-121079212	H1-neurons	neurons:	n/a	n/a
21	REST	chr12:121078625-121079761	HL-60	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
22	CTCF	chr12:121078792-121078992	GM12878	blood:	n/a	n/a
23	CTCF	chr12:121078860-121079010	GM12870	blood:	n/a	n/a
24	REST	chr12:121078611-121080060	HL-60	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
25	CTCF	chr12:121078800-121078950	GM12865	blood:	n/a	n/a
26	REST	chr12:121078836-121079714	PFSK-1	brain:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
27	UBTF	chr12:121078266-121079514	K562	blood:	n/a	n/a
28	SIN3A	chr12:121077666-121079638	H1-hESC	embryonic stem cell:	n/a	chr12:121078405-121078418 chr12:121079275-121079288
29	CCNT2	chr12:121078132-121079332	K562	blood:	n/a	n/a
30	CTCF	chr12:121078860-121079010	GM12868	blood:	n/a	n/a
31	CTCF	chr12:121078866-121078957	GM12891	blood:	n/a	n/a
32	HMGN3	chr12:121078158-121079444	K562	blood:	n/a	n/a
33	ZNF263	chr12:121077610-121079764	HEK293-T-REx	kidney:	n/a	chr12:121079219-121079228 chr12:121079301-121079310
34	CTCF	chr12:121078866-121078969	GM19239	blood:	n/a	n/a
35	CTCF	chr12:121078820-121078970	GM12866	blood:	n/a	n/a
36	CTCF	chr12:121078873-121078989	GM10266	blood:	n/a	n/a
37	ZNF263	chr12:121078533-121079509	K562	blood:	n/a	chr12:121079219-121079228 chr12:121079301-121079310
38	CTCF	chr12:121078631-121079141	K562	blood:	n/a	n/a
39	GABPA	chr12:121078800-121079522	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr12:121078857-121079004	GM12892	blood:	n/a	n/a
41	REST	chr12:121078759-121079709	PANC-1	pancreas:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
42	REST	chr12:121078204-121079915	ECC-1	luminal epithelium:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
43	YY1	chr12:121078670-121078898	K562	blood:	n/a	n/a
44	REST	chr12:121078724-121079791	MCF-7	breast:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
45	CTCF	chr12:121078760-121078910	GM12869	blood:	n/a	n/a
46	CTCF	chr12:121078840-121078990	GM12867	blood:	n/a	n/a
47	REST	chr12:121078802-121080136	A549	lung:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
48	REST	chr12:121078813-121078979	HepG2	liver:	n/a	n/a
49	REST	chr12:121078821-121079511	K562	blood:	n/a	chr12:121079331-121079351 chr12:121079319-121079333 chr12:121079331-121079340 chr12:121079334-121079347
50	MAZ	chr12:121078810-121079901	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121077855..121079516-chr12:121124357..121126482,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256008	TF binding region
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:89 , 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	chr12:121078000-121079000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:121078000-121079000	Active TSS	Psoas Muscle	Psoas
12	chr12:121078000-121079000	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr12:121078000-121079200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:121078000-121079200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:121078000-121079200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:121078000-121079200	Active TSS	Pancreas	Pancrea
17	chr12:121078000-121079400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:121078000-121079400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr12:121078000-121079400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr12:121078000-121079400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr12:121078000-121079400	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr12:121078000-121079400	Active TSS	Rectal Smooth Muscle	rectum
23	chr12:121078000-121079400	Active TSS	Right Atrium	heart
24	chr12:121078000-121079400	Bivalent/Poised TSS	NHEK	skin
25	chr12:121078000-121079600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:121078000-121079800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr12:121078200-121079000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:121078200-121079000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:121078200-121079000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:121078200-121079000	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr12:121078200-121079000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr12:121078200-121079000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:121078200-121079000	Weak transcription	Brain Anterior Caudate	brain
34	chr12:121078200-121079000	Active TSS	Brain Cingulate Gyrus	brain
35	chr12:121078200-121079000	Active TSS	Esophagus	oesophagus
36	chr12:121078200-121079000	Active TSS	Left Ventricle	heart
37	chr12:121078200-121079000	Active TSS	Ovary	ovary
38	chr12:121078200-121079000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
39	chr12:121078200-121079000	Active TSS	K562	blood
40	chr12:121078200-121079200	Active TSS	H1 Cell Line	embryonic stem cell
41	chr12:121078200-121079200	Enhancers	Primary B cells from cord blood	blood
42	chr12:121078200-121079200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:121078200-121079200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:121078200-121079200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
45	chr12:121078200-121079200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
46	chr12:121078200-121079200	Active TSS	A549	lung
47	chr12:121078200-121079200	Active TSS	HepG2	liver
48	chr12:121078200-121079200	Active TSS	HMEC	breast
49	chr12:121078200-121079200	Bivalent/Poised TSS	NH-A	brain
50	chr12:121078200-121079400	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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