Variant report

Variant	rs113011043
Chromosome Location	chr12:124018273-124018274
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	chr12:124018258-124018962	K562	blood:	n/a	n/a
2	MAX	chr12:124017255-124019286	HepG2	liver:	n/a	chr12:124019137-124019147 chr12:124017624-124017639
3	POLR2A	chr12:124017557-124019155	K562	blood:	n/a	n/a
4	POLR2A	chr12:124017306-124019150	HepG2	liver:	n/a	n/a
5	TCF12	chr12:124018180-124018738	ECC-1	luminal epithelium:	n/a	n/a
6	NRF1	chr12:124018159-124018510	GM12878	blood:	n/a	chr12:124018308-124018322 chr12:124018311-124018322 chr12:124018311-124018322 chr12:124018313-124018322 chr12:124018311-124018325
7	TAF1	chr12:124018205-124018577	K562	blood:	n/a	n/a
8	CTCF	chr12:124018272-124019282	A549	lung:	n/a	chr12:124018907-124018916
9	POLR2A	chr12:124017688-124019111	K562	blood:	n/a	n/a
10	MAX	chr12:124017326-124019119	K562	blood:	n/a	chr12:124017624-124017639
11	POLR2A	chr12:124017562-124019144	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr12:124018253-124018488	SK-N-SH	brain:	n/a	n/a
13	MAX	chr12:124017269-124019274	A549	lung:	n/a	chr12:124019137-124019147 chr12:124017624-124017639
14	POLR2A	chr12:124018178-124018731	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr12:124017727-124019089	K562	blood:	n/a	n/a
16	POLR2A	chr12:124018207-124019131	PANC-1	pancreas:	n/a	n/a
17	NRF1	chr12:124018250-124018450	H1-hESC	embryonic stem cell:	n/a	chr12:124018308-124018322 chr12:124018311-124018322 chr12:124018311-124018322 chr12:124018313-124018322 chr12:124018311-124018325
18	CCNT2	chr12:124017594-124018993	K562	blood:	n/a	chr12:124018745-124018754
19	YY1	chr12:124018259-124018637	GM12892	blood:	n/a	chr12:124018410-124018424 chr12:124018508-124018522 chr12:124018324-124018338 chr12:124018595-124018609 chr12:124018509-124018523 chr12:124018464-124018478 chr12:124018464-124018473
20	POLR2A	chr12:124017924-124018903	IMR90	lung:	n/a	n/a
21	ZBTB7A	chr12:124018147-124019171	K562	blood:	n/a	chr12:124018617-124018625
22	MAX	chr12:124017459-124018605	Hela-S3	cervix:	n/a	chr12:124017624-124017639
23	E2F6	chr12:124017363-124018308	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAZ	chr12:124016579-124019401	IMR90	lung:	n/a	chr12:124019137-124019147 chr12:124016824-124016835 chr12:124017249-124017259 chr12:124017624-124017639
25	POLR2A	chr12:124017644-124019078	HepG2	liver:	n/a	n/a
26	POLR2A	chr12:124018029-124019143	HEK293	kidney:	n/a	n/a
27	POLR2A	chr12:124017651-124018533	Gliobla	brain:	n/a	n/a
28	REST	chr12:124018267-124019551	H1-neurons	neurons:	n/a	chr12:124018410-124018423 chr12:124019137-124019150
29	MAX	chr12:124017425-124018291	H1-hESC	embryonic stem cell:	n/a	chr12:124017624-124017639
30	HEY1	chr12:124018263-124018671	K562	blood:	n/a	chr12:124018509-124018524
31	POLR2A	chr12:124017515-124019142	A549	lung:	n/a	n/a
32	POLR2A	chr12:124018186-124018820	H1-neurons	neurons:	n/a	n/a
33	MYC	chr12:124016769-124019025	K562	blood:	n/a	chr12:124016824-124016835 chr12:124017249-124017259 chr12:124017624-124017639
34	POLR2A	chr12:124017694-124018702	ProgFib	skin:	n/a	n/a
35	SIN3AK20	chr12:124018238-124018852	PANC-1	pancreas:	n/a	n/a
36	UBTF	chr12:124017689-124019103	K562	blood:	n/a	n/a
37	MXI1	chr12:124017183-124019192	IMR90	lung:	n/a	n/a
38	TAF1	chr12:124017492-124018872	HepG2	liver:	n/a	n/a
39	MYC	chr12:124017262-124019228	A549	lung:	n/a	chr12:124019137-124019147 chr12:124017624-124017639
40	MAZ	chr12:124017507-124019189	K562	blood:	n/a	chr12:124019137-124019147 chr12:124017624-124017639
41	POLR2A	chr12:124018197-124018864	NB4	blood:	n/a	n/a
42	POLR2A	chr12:124018270-124018565	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr12:124018226-124019001	HCT-116	colon:	n/a	n/a
44	HMGN3	chr12:124017509-124019090	K562	blood:	n/a	n/a
45	POLR2A	chr12:124017746-124018675	MCF-7	breast:	n/a	n/a
46	E2F6	chr12:124017474-124018601	K562	blood:	n/a	chr12:124018461-124018468 chr12:124018312-124018321 chr12:124018465-124018475 chr12:124018468-124018478
47	POLR2A	chr12:124018264-124018614	HUVEC	blood vessel:	n/a	n/a
48	EP300	chr12:124018025-124019163	SK-N-SH	brain:	n/a	chr12:124018466-124018475 chr12:124018708-124018724
49	TAF1	chr12:124018211-124018803	ECC-1	luminal epithelium:	n/a	n/a
50	E2F6	chr12:124017560-124018651	K562	blood:	n/a	chr12:124018461-124018468 chr12:124018312-124018321 chr12:124018465-124018475 chr12:124018468-124018478

No.	Distal block	Cell Line	Cell type
1	chr12:124018210..124020140-chr12:124067644..124069375,2	MCF-7	breast:
2	chr12:123997284..124000079-chr12:124017073..124019484,2	MCF-7	breast:
3	chr12:124017823..124018449-chr6:26156256..26156790,2	HCT-116	colon:
4	chr12:123947470..123950375-chr12:124015636..124018854,3	K562	blood:
5	chr12:123872416..123876102-chr12:124017252..124019601,4	MCF-7	breast:
6	chr12:123871385..123875741-chr12:124017374..124019532,6	MCF-7	breast:
7	chr12:124017816..124019657-chr12:124117596..124119161,2	MCF-7	breast:
8	chr12:123753293..123757508-chr12:124015727..124020202,5	K562	blood:
9	chr12:124015786..124020200-chr12:124020787..124024805,6	K562	blood:
10	chr12:123942564..123944577-chr12:124016063..124019666,4	MCF-7	breast:
11	chr12:124016749..124018606-chr12:124069216..124071514,2	K562	blood:
12	chr12:123948940..123951509-chr12:124017235..124019368,2	MCF-7	breast:
13	chr12:123998884..124001416-chr12:124016546..124018370,2	K562	blood:
14	chr12:124018224..124020563-chr12:124065688..124070487,5	K562	blood:
15	chr12:123943032..123944561-chr12:124016969..124018583,2	MCF-7	breast:
16	chr12:124017444..124019100-chr12:124084646..124086674,2	MCF-7	breast:

Variant related genes	Relation type
RILPL1	TF binding region
MIR3908	TF binding region
ENSG00000086598	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000266655	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000184209	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000111328	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1037260	chr12:123956749-124023069	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	esv2422416	chr12:124009676-124085689	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	esv3357232	chr12:124017349-124019447	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 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	chr12:124016400-124019400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:124016800-124019000	Active TSS	Left Ventricle	heart
3	chr12:124016800-124019200	Active TSS	Aorta	Aorta
4	chr12:124016800-124019400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:124016800-124019400	Active TSS	Right Atrium	heart
6	chr12:124017000-124019000	Active TSS	NHDF-Ad	bronchial
7	chr12:124017000-124019200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:124017000-124019200	Active TSS	Ovary	ovary
9	chr12:124017000-124019200	Active TSS	Psoas Muscle	Psoas
10	chr12:124017000-124019200	Active TSS	Right Ventricle	heart
11	chr12:124017000-124019200	Active TSS	NHLF	lung
12	chr12:124017000-124019400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:124017000-124019400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:124017000-124019600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:124017200-124019000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:124017200-124019000	Active TSS	Brain Cingulate Gyrus	brain
17	chr12:124017200-124019000	Active TSS	A549	lung
18	chr12:124017200-124019400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr12:124017200-124019400	Active TSS	Colon Smooth Muscle	Colon
20	chr12:124017200-124019400	Active TSS	HSMM	muscle
21	chr12:124017400-124019000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr12:124017400-124019200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr12:124017400-124019200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr12:124017400-124019400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:124017400-124019400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:124017400-124019400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:124017400-124019400	Active TSS	Brain Angular Gyrus	brain
28	chr12:124017400-124019400	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr12:124017400-124019400	Active TSS	Lung	lung
30	chr12:124017400-124019600	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr12:124017600-124018800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:124017600-124018800	Active TSS	Osteobl	bone
33	chr12:124017600-124019000	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr12:124017600-124019000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:124017600-124019000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:124017600-124019000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:124017600-124019000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:124017600-124019000	Active TSS	Muscle Satellite Cultured Cells	--
39	chr12:124017600-124019000	Active TSS	Brain Substantia Nigra	brain
40	chr12:124017600-124019000	Active TSS	Fetal Lung	lung
41	chr12:124017600-124019000	Active TSS	Fetal Stomach	stomach
42	chr12:124017600-124019000	Active TSS	Stomach Smooth Muscle	stomach
43	chr12:124017600-124019000	Active TSS	NHEK	skin
44	chr12:124017600-124019200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:124017600-124019200	Active TSS	Brain Hippocampus Middle	brain
46	chr12:124017600-124019400	Active TSS	Rectal Smooth Muscle	rectum
47	chr12:124017600-124019400	Active TSS	Hela-S3	cervix
48	chr12:124017600-124019600	Active TSS	Brain Anterior Caudate	brain
49	chr12:124017800-124018800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:124017800-124018800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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