Variant report

Variant	rs140598041
Chromosome Location	chr12:123754219-123754220
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	MXI1	chr12:123753684-123757129	IMR90	lung:	n/a	chr12:123755352-123755361
2	YY1	chr12:123754099-123754890	HepG2	liver:	n/a	chr12:123754148-123754159 chr12:123754365-123754376 chr12:123754231-123754242 chr12:123754375-123754387
3	CTCF	chr12:123754200-123754350	GM12878	blood:	n/a	n/a
4	CTCF	chr12:123754100-123754250	GM12871	blood:	n/a	n/a
5	MAZ	chr12:123753845-123754717	GM12878	blood:	n/a	chr12:123754155-123754164 chr12:123754240-123754250
6	CTCF	chr12:123754160-123754310	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr12:123754180-123754330	GM12878	blood:	n/a	n/a
8	CTCF	chr12:123754100-123754250	GM12869	blood:	n/a	n/a
9	YY1	chr12:123753901-123754622	SK-N-SH	brain:	n/a	chr12:123753946-123753957 chr12:123753975-123753983 chr12:123754148-123754159 chr12:123754365-123754376 chr12:123754231-123754242 chr12:123753948-123753957 chr12:123754375-123754387 chr12:123753945-123753954
10	MAX	chr12:123753994-123754468	GM12878	blood:	n/a	chr12:123754155-123754164 chr12:123754240-123754250
11	ZBTB7A	chr12:123754093-123754221	HepG2	liver:	n/a	n/a
12	STAT5A	chr12:123753376-123754238	GM12878	blood:	n/a	chr12:123753947-123753959
13	POLR2A	chr12:123753825-123754474	GM12878	blood:	n/a	n/a
14	CTCF	chr12:123754200-123754350	GM12874	blood:	n/a	n/a
15	POLR2A	chr12:123753036-123754222	H1-hESC	embryonic stem cell:	n/a	n/a
16	JUND	chr12:123753730-123754447	H1-hESC	embryonic stem cell:	n/a	chr12:123753948-123753957 chr12:123754238-123754247
17	CTCF	chr12:123754180-123754330	GM12874	blood:	n/a	n/a
18	POLR2A	chr12:123753845-123754448	GM12891	blood:	n/a	n/a
19	TAF1	chr12:123753856-123754459	H1-neurons	neurons:	n/a	n/a
20	SIN3AK20	chr12:123754196-123754408	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr12:123753914-123754464	GM15510	blood:	n/a	n/a
22	POLR2A	chr12:123753882-123754693	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr12:123753967-123754524	GM18951	blood:	n/a	n/a
24	CTCF	chr12:123754100-123754250	GM12872	blood:	n/a	n/a
25	CTCF	chr12:123754058-123754311	SK-N-SH_RA	brain:	n/a	n/a
26	ZBTB7A	chr12:123754056-123754610	K562	blood:	n/a	n/a
27	REST	chr12:123753849-123754428	SK-N-SH	brain:	n/a	chr12:123754061-123754079 chr12:123754356-123754374
28	POLR2A	chr12:123753961-123754428	IMR90	lung:	n/a	n/a
29	NFIC	chr12:123753919-123754345	GM12878	blood:	n/a	n/a
30	CTCF	chr12:123754140-123754290	HMF	breast:	n/a	n/a
31	CHD1	chr12:123753598-123756147	IMR90	lung:	n/a	chr12:123754235-123754245
32	EGR1	chr12:123754093-123754338	GM12878	blood:	n/a	chr12:123754234-123754247 chr12:123754232-123754246 chr12:123754231-123754244 chr12:123754151-123754164 chr12:123754239-123754249
33	MXI1	chr12:123751836-123757238	SK-N-SH	brain:	n/a	chr12:123755352-123755361
34	POLR2A	chr12:123753070-123754228	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr12:123754180-123754330	AG09319	gingival:	n/a	n/a
36	POLR2A	chr12:123754048-123755477	SK-N-MC	brain:	n/a	n/a
37	YY1	chr12:123753850-123754585	SK-N-SH_RA	brain:	n/a	chr12:123753946-123753957 chr12:123753975-123753983 chr12:123754148-123754159 chr12:123754365-123754376 chr12:123754231-123754242 chr12:123753948-123753957 chr12:123754375-123754387 chr12:123753945-123753954
38	CTCF	chr12:123754200-123754350	WERI-Rb-1	eye:	n/a	n/a
39	TAF1	chr12:123753851-123754545	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr12:123753955-123754313	H1-hESC	embryonic stem cell:	n/a	chr12:123754235-123754245
41	EP300	chr12:123753951-123754407	SK-N-SH_RA	brain:	n/a	n/a
42	MAX	chr12:123753874-123754505	H1-hESC	embryonic stem cell:	n/a	chr12:123754155-123754164 chr12:123754240-123754250
43	POLR2A	chr12:123753970-123754353	ProgFib	skin:	n/a	n/a
44	YY1	chr12:123753793-123754616	GM12878	blood:	n/a	chr12:123753946-123753957 chr12:123753975-123753983 chr12:123754148-123754159 chr12:123754365-123754376 chr12:123754231-123754242 chr12:123753948-123753957 chr12:123754375-123754387 chr12:123753945-123753954
45	CTCF	chr12:123754140-123754290	AoAF	blood vessel:	n/a	n/a
46	POLR2A	chr12:123753844-123755161	H1-neurons	neurons:	n/a	n/a
47	CTCF	chr12:123754066-123754437	H1-hESC	embryonic stem cell:	n/a	n/a
48	YY1	chr12:123754203-123754596	H1-hESC	embryonic stem cell:	n/a	chr12:123754365-123754376 chr12:123754231-123754242 chr12:123754375-123754387
49	CTCF	chr12:123754180-123754330	GM12875	blood:	n/a	n/a
50	YY1	chr12:123754217-123754562	GM12891	blood:	n/a	chr12:123754365-123754376 chr12:123754231-123754242 chr12:123754375-123754387

No.	Distal block	Cell Line	Cell type
1	chr12:123753500..123755086-chr12:124068992..124070507,2	MCF-7	breast:
2	chr12:123717014..123719935-chr12:123753310..123757333,7	K562	blood:
3	chr12:123754032..123756441-chr12:123848296..123851530,6	K562	blood:
4	chr12:123737328..123740075-chr12:123754040..123756567,3	MCF-7	breast:
5	chr12:123753572..123756952-chr12:123872035..123874712,3	MCF-7	breast:
6	chr12:123753478..123757222-chr12:123871925..123875006,5	K562	blood:
7	chr12:123753349..123756927-chr12:123873006..123875020,4	MCF-7	breast:
8	chr12:123449665..123451282-chr12:123753748..123757462,3	MCF-7	breast:
9	chr12:123753293..123755952-chr12:123766285..123768150,2	MCF-7	breast:
10	chr12:123753451..123758032-chr12:123846651..123850459,6	MCF-7	breast:
11	chr12:123753793..123756876-chr12:124117523..124121813,4	K562	blood:
12	chr12:123753293..123757508-chr12:124015727..124020202,5	K562	blood:
13	chr12:123752887..123754431-chr12:123868251..123870818,2	K562	blood:
14	chr12:123753772..123755288-chr12:124118042..124119686,2	MCF-7	breast:
15	chr12:123754082..123756520-chr12:123873506..123875645,3	K562	blood:
16	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:
17	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:

Variant related genes	Relation type
CDK2AP1	TF binding region
ENSG00000256092	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000199845	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000183955	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	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv1803368	chr12:123640853-123822503	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 miRNA target site	70 gene(s)	inside rSNPs	diseases
3	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers 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 miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers 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 miRNA target site	70 gene(s)	inside rSNPs	diseases
5	esv3371786	chr12:123753799-123757997	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123742400-123754600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:123742400-123754600	Weak transcription	Small Intestine	intestine
3	chr12:123747000-123754400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:123749400-123754600	Enhancers	Fetal Brain Male	brain
5	chr12:123752000-123755600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:123752200-123755200	Flanking Active TSS	Fetal Muscle Leg	muscle
7	chr12:123752200-123755600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:123752200-123755600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr12:123752400-123754400	Enhancers	Lung	lung
10	chr12:123752400-123755400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr12:123752400-123755600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr12:123752400-123755600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr12:123752600-123754400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:123752600-123754600	Active TSS	Rectal Smooth Muscle	rectum
15	chr12:123752600-123755400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr12:123752600-123755400	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr12:123753000-123754400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr12:123753000-123754400	Enhancers	Stomach Mucosa	stomach
19	chr12:123753000-123755600	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr12:123753000-123756800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:123753200-123754400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr12:123753200-123754400	Enhancers	Fetal Heart	heart
23	chr12:123753200-123754400	Weak transcription	A549	lung
24	chr12:123753200-123754600	Enhancers	Liver	Liver
25	chr12:123753200-123755000	Flanking Active TSS	NH-A	brain
26	chr12:123753200-123755400	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr12:123753400-123754400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr12:123753400-123755400	Flanking Active TSS	Colonic Mucosa	Colon
29	chr12:123753400-123755600	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr12:123753600-123754400	Weak transcription	Dnd41	blood
31	chr12:123753600-123754600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr12:123753600-123754800	Flanking Active TSS	HMEC	breast
33	chr12:123753600-123755000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:123753600-123755200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:123753600-123755400	Flanking Active TSS	Fetal Muscle Trunk	muscle
36	chr12:123753600-123755400	Flanking Active TSS	Fetal Thymus	thymus
37	chr12:123753600-123757200	Active TSS	H9 Cell Line	embryonic stem cell
38	chr12:123753800-123754400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:123753800-123754400	Active TSS	Brain Hippocampus Middle	brain
40	chr12:123753800-123754400	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr12:123753800-123754400	Enhancers	Hela-S3	cervix
42	chr12:123753800-123754600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:123753800-123754600	Enhancers	K562	blood
44	chr12:123753800-123755200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:123753800-123755400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr12:123753800-123755400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr12:123753800-123755600	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr12:123753800-123755600	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr12:123753800-123757000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:123753800-123757000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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