Variant report

Variant	rs376992384
Chromosome Location	chr12:104532311-104532312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:275)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:104532310-104532535	K562	blood:	n/a	chr12:104532334-104532343
2	MAX	chr12:104531593-104532728	HepG2	liver:	n/a	n/a
3	REST	chr12:104531615-104532453	HL-60	blood:	n/a	chr12:104532401-104532410 chr12:104532262-104532276 chr12:104532349-104532367 chr12:104532268-104532281
4	MAX	chr12:104531801-104532570	GM12878	blood:	n/a	n/a
5	ZBTB7A	chr12:104531903-104532545	K562	blood:	n/a	chr12:104532536-104532545
6	MAX	chr12:104531667-104532455	Hela-S3	cervix:	n/a	n/a
7	EP300	chr12:104531530-104532558	SK-N-SH	brain:	n/a	chr12:104531582-104531598 chr12:104532225-104532241
8	REST	chr12:104532124-104532322	SK-N-SH	brain:	n/a	chr12:104532262-104532276 chr12:104532268-104532281
9	SIN3AK20	chr12:104531020-104532353	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr12:104532106-104532413	K562	blood:	n/a	n/a
11	JUND	chr12:104531710-104532419	K562	blood:	n/a	n/a
12	CREB1	chr12:104531546-104532447	HepG2	liver:	n/a	n/a
13	ZKSCAN1	chr12:104531838-104532326	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr12:104530398-104532806	MCF10A-Er-Src	breast:	n/a	n/a
15	CHD2	chr12:104531781-104532351	GM12878	blood:	n/a	n/a
16	CEBPD	chr12:104531997-104532367	HepG2	liver:	n/a	n/a
17	POLR2A	chr12:104531666-104532387	GM12891	blood:	n/a	n/a
18	POLR2A	chr12:104531587-104532411	K562	blood:	n/a	n/a
19	MAX	chr12:104531718-104532771	NB4	blood:	n/a	n/a
20	POLR2A	chr12:104530994-104532440	K562	blood:	n/a	n/a
21	TAF1	chr12:104531029-104532403	HepG2	liver:	n/a	n/a
22	RAD21	chr12:104532129-104532332	SK-N-SH_RA	brain:	n/a	n/a
23	MYBL2	chr12:104531625-104532414	HepG2	liver:	n/a	n/a
24	UBTF	chr12:104530765-104532495	K562	blood:	n/a	n/a
25	BHLHE40	chr12:104531797-104532337	K562	blood:	n/a	n/a
26	POLR2A	chr12:104531499-104532554	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr12:104530962-104532387	HepG2	liver:	n/a	n/a
28	POLR2A	chr12:104530556-104532415	GM19099	blood:	n/a	n/a
29	E2F6	chr12:104531600-104532908	K562	blood:	n/a	n/a
30	POLR2A	chr12:104531724-104532390	Hela-S3	cervix:	n/a	n/a
31	E2F6	chr12:104531727-104532641	A549	lung:	n/a	n/a
32	TAF1	chr12:104530981-104532377	K562	blood:	n/a	n/a
33	RELA	chr12:104531026-104532360	GM15510	blood:	n/a	n/a
34	POLR2A	chr12:104530774-104532429	ECC-1	luminal epithelium:	n/a	n/a
35	CHD2	chr12:104531768-104532683	K562	blood:	n/a	n/a
36	MYC	chr12:104531897-104532581	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr12:104531455-104532429	Hela-S3	cervix:	n/a	n/a
38	GABPA	chr12:104531785-104532411	K562	blood:	n/a	n/a
39	E2F6	chr12:104531643-104532638	K562	blood:	n/a	n/a
40	RCOR1	chr12:104531775-104532381	K562	blood:	n/a	n/a
41	E2F4	chr12:104531431-104532511	K562	blood:	n/a	n/a
42	TEAD4	chr12:104532095-104532391	K562	blood:	n/a	n/a
43	SIN3AK20	chr12:104531684-104532325	K562	blood:	n/a	n/a
44	TBP	chr12:104531619-104532392	K562	blood:	n/a	n/a
45	POLR2A	chr12:104531072-104532367	GM12878	blood:	n/a	n/a
46	EP300	chr12:104531764-104532490	MCF-7	breast:	n/a	chr12:104532225-104532241
47	CBX3	chr12:104532099-104532313	K562	blood:	n/a	n/a
48	POLR2A	chr12:104530699-104532417	GM18505	blood:	n/a	n/a
49	MAX	chr12:104531831-104532574	K562	blood:	n/a	n/a
50	CTCF	chr12:104532260-104532410	AG09319	gingival:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104530782..104534411-chr12:104679881..104682289,3	K562	blood:
2	chr12:104358049..104359986-chr12:104530882..104532737,3	K562	blood:
3	chr12:104456193..104459744-chr12:104529847..104533076,6	K562	blood:
4	chr12:104531440..104533678-chr17:57914653..57916695,2	MCF-7	breast:
5	chr12:104348297..104351124-chr12:104530392..104533056,3	MCF-7	breast:
6	chr12:104529986..104533486-chr12:104678703..104682517,5	MCF-7	breast:
7	chr12:104510515..104519727-chr12:104525085..104533754,15	MCF-7	breast:
8	chr12:104234047..104236214-chr12:104531313..104532962,2	MCF-7	breast:
9	chr12:104456335..104459744-chr12:104529847..104533076,5	K562	blood:
10	chr12:104356409..104362053-chr12:104528975..104533138,7	MCF-7	breast:
11	chr12:104530438..104533662-chr12:104564030..104567253,5	K562	blood:
12	chr12:104530514..104533012-chr12:104679009..104681675,2	K562	blood:
13	chr12:104531360..104532346-chr4:185395679..185396224,2	Hela-S3	cervix:
14	chr12:104490343..104492832-chr12:104530682..104533569,2	MCF-7	breast:
15	chr12:104530672..104533179-chr6:154830934..154833113,2	MCF-7	breast:
16	chr1:154946283..154947051-chr12:104531811..104532400,2	Hela-S3	cervix:
17	chr12:104530239..104532383-chr12:105499797..105502736,2	MCF-7	breast:
18	chr12:104530429..104534144-chr12:104679811..104684673,6	MCF-7	breast:
19	chr12:104455182..104458865-chr12:104529769..104532559,3	MCF-7	breast:
20	chr12:104357850..104359549-chr12:104531019..104533949,2	K562	blood:

No data

Variant related genes	Relation type
NFYB	TF binding region
ENSG00000271646	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000199415	Chromatin interaction
ENSG00000111727	Chromatin interaction
ENSG00000257193	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000120820	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000168310	Chromatin interaction
ENSG00000257327	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000160691	Chromatin interaction
ENSG00000153721	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000136051	Chromatin interaction
ENSG00000257999	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823607	chr12:104506318-104549541	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
2	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
4	esv3378083	chr12:104530222-104533220	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
5	esv3356986	chr12:104530722-104533070	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
6	esv1822830	chr12:104531180-104535862	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
7	esv1851658	chr12:104531180-104535862	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
8	esv1836100	chr12:104531180-104558476	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
9	esv1836581	chr12:104531180-104558476	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
10	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104529200-104532400	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr12:104529600-104532400	Active TSS	NHLF	lung
3	chr12:104530000-104532400	Active TSS	NHDF-Ad	bronchial
4	chr12:104530000-104532800	Active TSS	Aorta	Aorta
5	chr12:104530200-104532400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:104530200-104532400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr12:104530200-104532400	Active TSS	HSMMtube	muscle
8	chr12:104530200-104532800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:104530200-104533200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr12:104530400-104532400	Active TSS	Left Ventricle	heart
11	chr12:104530400-104532600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:104530400-104532800	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr12:104530400-104533000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr12:104530600-104532400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:104530600-104532400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:104530600-104532400	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr12:104530600-104532600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:104530600-104532600	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr12:104530600-104532600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:104530600-104532800	Active TSS	Psoas Muscle	Psoas
21	chr12:104530800-104532400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:104530800-104532400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:104530800-104532400	Active TSS	Esophagus	oesophagus
24	chr12:104530800-104532400	Active TSS	Gastric	stomach
25	chr12:104530800-104532600	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr12:104530800-104532600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:104530800-104532600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:104530800-104532600	Active TSS	Fetal Kidney	kidney
29	chr12:104530800-104532600	Active TSS	Ovary	ovary
30	chr12:104530800-104532800	Active TSS	Brain Germinal Matrix	brain
31	chr12:104531000-104532400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:104531000-104532400	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr12:104531000-104532400	Active TSS	Brain Anterior Caudate	brain
34	chr12:104531000-104532400	Active TSS	Brain Hippocampus Middle	brain
35	chr12:104531000-104532400	Active TSS	Duodenum Mucosa	Duodenum
36	chr12:104531000-104532400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr12:104531000-104532400	Active TSS	Placenta Amnion	Placenta Amnion
38	chr12:104531000-104532400	Active TSS	Rectal Smooth Muscle	rectum
39	chr12:104531000-104532400	Active TSS	Small Intestine	intestine
40	chr12:104531000-104532400	Active TSS	A549	lung
41	chr12:104531000-104532400	Active TSS	HSMM	muscle
42	chr12:104531000-104532600	Active TSS	Brain Cingulate Gyrus	brain
43	chr12:104531000-104532600	Active TSS	Fetal Brain Female	brain
44	chr12:104531000-104532600	Active TSS	Fetal Lung	lung
45	chr12:104531200-104532400	Active TSS	Primary T cells from cord blood	blood
46	chr12:104531200-104532400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr12:104531200-104532400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:104531200-104532400	Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr12:104531200-104532400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:104531200-104532400	Weak transcription	Fetal Brain Male	brain

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