Variant report

Variant	rs2231746
Chromosome Location	chr12:8234479-8234480
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	chr12:8234327-8235131	U87	brain:	n/a	n/a
2	POLR2A	chr12:8233779-8235781	PBDE	blood:	n/a	n/a
3	CREB1	chr12:8234432-8235158	ECC-1	luminal epithelium:	n/a	n/a
4	CHD2	chr12:8234466-8235023	K562	blood:	n/a	n/a
5	THAP1	chr12:8234466-8235010	K562	blood:	n/a	chr12:8234537-8234561 chr12:8234671-8234695 chr12:8234710-8234734
6	ATF1	chr12:8234477-8235035	K562	blood:	n/a	chr12:8234925-8234939
7	MAX	chr12:8234312-8235436	HepG2	liver:	n/a	n/a
8	GTF2F1	chr12:8233973-8235448	Hela-S3	cervix:	n/a	n/a
9	MAX	chr12:8234344-8235340	SK-N-SH	brain:	n/a	n/a
10	YY1	chr12:8234405-8235076	K562	blood:	n/a	chr12:8234667-8234675 chr12:8234587-8234609 chr12:8234547-8234563 chr12:8234861-8234875 chr12:8234723-8234735 chr12:8234713-8234735
11	MYC	chr12:8233947-8235347	K562	blood:	n/a	n/a
12	POLR2A	chr12:8234421-8235191	HUVEC	blood vessel:	n/a	n/a
13	MYC	chr12:8234015-8235451	NB4	blood:	n/a	n/a
14	ZBTB33	chr12:8234397-8235146	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr12:8234229-8235624	H1-neurons	neurons:	n/a	n/a
16	REST	chr12:8234276-8235398	H1-neurons	neurons:	n/a	chr12:8234862-8234875 chr12:8234859-8234877
17	MAX	chr12:8234188-8235570	HCT-116	colon:	n/a	n/a
18	GABPA	chr12:8234315-8235137	SK-N-SH	brain:	n/a	n/a
19	YY1	chr12:8234357-8235416	K562	blood:	n/a	chr12:8234667-8234675 chr12:8234587-8234609 chr12:8234547-8234563 chr12:8234861-8234875 chr12:8234723-8234735 chr12:8234713-8234735
20	CHD2	chr12:8234335-8235047	HepG2	liver:	n/a	n/a
21	SIX5	chr12:8234319-8234951	GM12878	blood:	n/a	n/a
22	SP4	chr12:8234340-8234888	H1-hESC	embryonic stem cell:	n/a	n/a
23	YY1	chr12:8234261-8235380	SK-N-SH_RA	brain:	n/a	chr12:8234667-8234675 chr12:8234587-8234609 chr12:8234547-8234563 chr12:8234861-8234875 chr12:8234723-8234735 chr12:8234713-8234735
24	CBX3	chr12:8234452-8235068	K562	blood:	n/a	n/a
25	RCOR1	chr12:8234476-8235279	HepG2	liver:	n/a	n/a
26	POU2F2	chr12:8234382-8235185	GM12878	blood:	n/a	chr12:8234632-8234650 chr12:8234854-8234866
27	POLR2A	chr12:8234336-8235338	Hela-S3	cervix:	n/a	n/a
28	THAP1	chr12:8234335-8234947	K562	blood:	n/a	chr12:8234537-8234561 chr12:8234671-8234695 chr12:8234710-8234734
29	TRIM28	chr12:8234397-8235083	K562	blood:	n/a	n/a
30	POLR2A	chr12:8234339-8235158	GM12891	blood:	n/a	n/a
31	GATA1	chr12:8233867-8235890	PBDE	blood:	n/a	n/a
32	ELF1	chr12:8234458-8235134	GM12878	blood:	n/a	chr12:8234858-8234867
33	RCOR1	chr12:8234450-8235443	K562	blood:	n/a	n/a
34	ELF1	chr12:8234446-8234913	HepG2	liver:	n/a	chr12:8234858-8234867
35	MAX	chr12:8234156-8235371	A549	lung:	n/a	n/a
36	SP1	chr12:8234477-8235149	GM12878	blood:	n/a	n/a
37	GABPA	chr12:8234396-8235187	MCF-7	breast:	n/a	n/a
38	YY1	chr12:8234319-8235379	K562	blood:	n/a	chr12:8234667-8234675 chr12:8234587-8234609 chr12:8234547-8234563 chr12:8234861-8234875 chr12:8234723-8234735 chr12:8234713-8234735
39	YY1	chr12:8234323-8235401	SK-N-SH	brain:	n/a	chr12:8234667-8234675 chr12:8234587-8234609 chr12:8234547-8234563 chr12:8234861-8234875 chr12:8234723-8234735 chr12:8234713-8234735
40	SP1	chr12:8234157-8235186	A549	lung:	n/a	n/a
41	SIN3AK20	chr12:8234336-8235353	HCT-116	colon:	n/a	n/a
42	PML	chr12:8234356-8235143	K562	blood:	n/a	n/a
43	HEY1	chr12:8234302-8235108	K562	blood:	n/a	n/a
44	POLR2A	chr12:8234314-8235159	HepG2	liver:	n/a	n/a
45	MAX	chr12:8234266-8235435	SK-N-SH	brain:	n/a	n/a
46	E2F6	chr12:8234311-8235146	A549	lung:	n/a	n/a
47	PML	chr12:8234434-8235126	K562	blood:	n/a	n/a
48	POLR2A	chr12:8233853-8235403	GM19193	blood:	n/a	n/a
49	POLR2A	chr12:8233872-8235435	GM15510	blood:	n/a	n/a
50	ATF2	chr12:8234393-8235038	H1-hESC	embryonic stem cell:	n/a	chr12:8234925-8234939

No.	Distal block	Cell Line	Cell type
1	chr12:8217345..8219129-chr12:8233768..8236260,3	K562	blood:
2	chr12:8183609..8186953-chr12:8232808..8236299,4	K562	blood:
3	chr12:8189586..8192234-chr12:8230888..8234565,4	K562	blood:
4	chr1:36235185..36236019-chr12:8234307..8235156,2	HCT-116	colon:
5	chr12:8145440..8147761-chr12:8234352..8236244,2	MCF-7	breast:
6	chr12:8178333..8181229-chr12:8233064..8234704,2	MCF-7	breast:
7	chr12:8184234..8186516-chr12:8232598..8235284,2	K562	blood:

Variant related genes	Relation type
NECAP1	TF binding region
ENSG00000065970	Chromatin interaction
ENSG00000092853	Chromatin interaction
ENSG00000240739	Chromatin interaction
ENSG00000171860	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10846303	1.00[MEX][hapmap]
rs12299763	1.00[MEX][hapmap]
rs12322706	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers 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 miRNA target site	97 gene(s)	inside rSNPs	diseases
3	esv1795892	chr12:7856819-8508693	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2758292	chr12:7856819-8623987	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	esv2759877	chr12:7856819-8623987	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv428270	chr12:7856819-8623987	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription 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 target site	93 gene(s)	inside rSNPs	diseases
7	esv1793572	chr12:7995827-8568422	Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv1040972	chr12:8003413-8266291	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv541388	chr12:8003413-8266291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv916941	chr12:8003501-8608220	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
11	nsv1045521	chr12:8123225-8242846	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
12	nsv1040958	chr12:8177050-8309724	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	nsv541396	chr12:8177050-8309724	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	nsv430460	chr12:8225225-8388656	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr12:8233000-8236000	Active TSS	K562	blood
2	chr12:8233200-8234800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:8233400-8234600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr12:8233400-8235400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:8233600-8234600	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr12:8233600-8234600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:8233600-8235000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:8233600-8235200	Active TSS	NHEK	skin
9	chr12:8233600-8235600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr12:8233600-8235800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr12:8233600-8235800	Active TSS	GM12878-XiMat	blood
12	chr12:8233800-8234600	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr12:8233800-8234600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr12:8233800-8235400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr12:8233800-8235400	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr12:8233800-8235400	Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr12:8233800-8235400	Active TSS	Duodenum Mucosa	Duodenum
18	chr12:8233800-8235400	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr12:8233800-8235600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr12:8233800-8235600	Active TSS	H9 Cell Line	embryonic stem cell
21	chr12:8233800-8235600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr12:8233800-8235600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:8233800-8235600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:8233800-8235600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:8233800-8235600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:8233800-8235600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:8233800-8235600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:8233800-8235600	Active TSS	Brain Cingulate Gyrus	brain
29	chr12:8233800-8235600	Active TSS	Brain Germinal Matrix	brain
30	chr12:8233800-8235600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr12:8233800-8235600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:8233800-8235600	Active TSS	Colon Smooth Muscle	Colon
33	chr12:8233800-8235600	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr12:8233800-8235600	Active TSS	Fetal Intestine Small	intestine
35	chr12:8233800-8235600	Active TSS	Fetal Kidney	kidney
36	chr12:8233800-8235600	Active TSS	Left Ventricle	heart
37	chr12:8233800-8235600	Active TSS	Psoas Muscle	Psoas
38	chr12:8233800-8235600	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr12:8233800-8235600	Active TSS	Stomach Smooth Muscle	stomach
40	chr12:8233800-8235600	Active TSS	A549	lung
41	chr12:8233800-8235600	Active TSS	HMEC	breast
42	chr12:8233800-8235800	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr12:8233800-8235800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:8233800-8235800	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr12:8233800-8235800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:8233800-8235800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:8233800-8235800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:8233800-8235800	Active TSS	Fetal Muscle Trunk	muscle
49	chr12:8233800-8235800	Active TSS	Ovary	ovary
50	chr12:8233800-8235800	Active TSS	Pancreas	Pancrea

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