Variant report

Variant	rs7954181
Chromosome Location	chr12:116971149-116971150
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	IRF1	chr12:116970800-116971444	K562	blood:	n/a	chr12:116971180-116971194 chr12:116971153-116971167 chr12:116971204-116971218 chr12:116971132-116971146
2	MAX	chr12:116970788-116971401	SK-N-SH	brain:	n/a	chr12:116971137-116971147 chr12:116971149-116971158
3	POLR2A	chr12:116970970-116972015	GM15510	blood:	n/a	n/a
4	POLR2A	chr12:116970820-116972838	H1-neurons	neurons:	n/a	n/a
5	ZBTB7A	chr12:116971105-116971389	K562	blood:	n/a	n/a
6	ZNF143	chr12:116971071-116971428	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3A	chr12:116970848-116973051	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr12:116970915-116971167	GM12878	blood:	n/a	chr12:116971137-116971147 chr12:116971149-116971158
9	POU2F2	chr12:116971144-116971597	GM12878	blood:	n/a	n/a
10	MAX	chr12:116970837-116971487	ECC-1	luminal epithelium:	n/a	chr12:116971137-116971147 chr12:116971149-116971158
11	TBP	chr12:116970742-116971487	K562	blood:	n/a	n/a
12	MYC	chr12:116970397-116972371	K562	blood:	n/a	chr12:116970552-116970561 chr12:116971137-116971147 chr12:116971149-116971158
13	MAX	chr12:116970339-116971596	K562	blood:	n/a	chr12:116970552-116970561 chr12:116971137-116971147 chr12:116971149-116971158
14	REST	chr12:116971013-116972150	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr12:116970910-116971532	PANC-1	pancreas:	n/a	n/a
16	SP1	chr12:116970716-116972166	A549	lung:	n/a	chr12:116971134-116971146 chr12:116971155-116971167 chr12:116971183-116971193 chr12:116971135-116971145 chr12:116971183-116971192 chr12:116971155-116971167 chr12:116971136-116971145 chr12:116971157-116971166 chr12:116971182-116971194 chr12:116971182-116971193 chr12:116971156-116971165 chr12:116971182-116971194 chr12:116971135-116971144 chr12:116971135-116971145 chr12:116971134-116971146 chr12:116971862-116971873 chr12:116971184-116971193 chr12:116971207-116971217 chr12:116971135-116971149 chr12:116971135-116971144 chr12:116971183-116971193 chr12:116971156-116971165 chr12:116971183-116971192 chr12:116971873-116971884
17	MAX	chr12:116970751-116971497	H1-hESC	embryonic stem cell:	n/a	chr12:116971137-116971147 chr12:116971149-116971158
18	EP300	chr12:116970724-116973137	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr12:116970869-116971444	K562	blood:	n/a	n/a
20	REST	chr12:116970601-116973294	H1-neurons	neurons:	n/a	n/a
21	TCF12	chr12:116970532-116972572	A549	lung:	n/a	n/a
22	MAX	chr12:116970339-116972111	A549	lung:	n/a	chr12:116970552-116970561 chr12:116971137-116971147 chr12:116971149-116971158
23	JUND	chr12:116970756-116971482	K562	blood:	n/a	n/a
24	MYC	chr12:116970392-116972000	K562	blood:	n/a	chr12:116970552-116970561 chr12:116971137-116971147 chr12:116971149-116971158
25	POLR2A	chr12:116970347-116971938	HCT-116	colon:	n/a	n/a
26	POLR2A	chr12:116970838-116972023	K562	blood:	n/a	n/a
27	TAF1	chr12:116970800-116972153	H1-neurons	neurons:	n/a	n/a
28	MTA3	chr12:116971138-116971657	GM12878	blood:	n/a	n/a
29	MAZ	chr12:116970934-116972685	K562	blood:	n/a	chr12:116971137-116971147 chr12:116971149-116971158
30	HCFC1	chr12:116970958-116971557	K562	blood:	n/a	n/a
31	POLR2A	chr12:116971126-116972081	GM12878	blood:	n/a	n/a
32	MAZ	chr12:116970669-116972872	IMR90	lung:	n/a	chr12:116971137-116971147 chr12:116971149-116971158
33	ZNF143	chr12:116971045-116971439	GM12878	blood:	n/a	n/a
34	POLR2A	chr12:116970775-116972041	GM12892	blood:	n/a	n/a
35	SP1	chr12:116970318-116972445	A549	lung:	n/a	chr12:116971134-116971146 chr12:116971155-116971167 chr12:116971183-116971193 chr12:116971135-116971145 chr12:116971183-116971192 chr12:116971155-116971167 chr12:116971136-116971145 chr12:116971157-116971166 chr12:116971182-116971194 chr12:116971182-116971193 chr12:116971156-116971165 chr12:116971182-116971194 chr12:116971135-116971144 chr12:116971135-116971145 chr12:116971134-116971146 chr12:116971862-116971873 chr12:116971184-116971193 chr12:116971207-116971217 chr12:116971135-116971149 chr12:116971135-116971144 chr12:116971183-116971193 chr12:116971156-116971165 chr12:116971183-116971192 chr12:116971873-116971884
36	ZNF384	chr12:116971050-116971172	K562	blood:	n/a	n/a
37	POLR2A	chr12:116970743-116971974	SK-N-MC	brain:	n/a	n/a
38	E2F6	chr12:116970476-116971427	K562	blood:	n/a	chr12:116971136-116971145 chr12:116971184-116971193 chr12:116971179-116971189
39	HMGN3	chr12:116971139-116971907	K562	blood:	n/a	n/a
40	MAZ	chr12:116970982-116972412	GM12878	blood:	n/a	chr12:116971137-116971147 chr12:116971149-116971158
41	MYC	chr12:116970840-116971557	NB4	blood:	n/a	chr12:116971137-116971147 chr12:116971149-116971158
42	POLR2A	chr12:116970938-116972046	GM12892	blood:	n/a	n/a
43	POLR2A	chr12:116970916-116973077	K562	blood:	n/a	n/a
44	POLR2A	chr12:116971066-116972061	GM12892	blood:	n/a	n/a
45	EGR1	chr12:116971111-116971292	GM12878	blood:	n/a	chr12:116971183-116971193 chr12:116971135-116971145 chr12:116971137-116971150 chr12:116971206-116971220 chr12:116971138-116971148
46	YY1	chr12:116971018-116971321	HCT-116	colon:	n/a	chr12:116971136-116971145 chr12:116971184-116971193
47	ATF3	chr12:116970750-116971526	A549	lung:	n/a	chr12:116971184-116971193 chr12:116971136-116971145 chr12:116971157-116971166 chr12:116970952-116970965
48	HEY1	chr12:116970894-116971472	K562	blood:	n/a	chr12:116971147-116971162
49	POLR2A	chr12:116970848-116972853	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr12:116970897-116971637	NB4	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:116971139-116971189	MCF-7	breast:	n/a
2	chr12:116971116-116971166	Caco-2	colon:	n/a
3	chr12:116971116-116971166	GM19239	blood:	n/a
4	chr12:116971116-116971166	HAEpiC	amniotic membrane:	n/a
5	chr12:116971116-116971166	AoSMC	blood vessel:	n/a
6	chr12:116971139-116971189	CMK	blood:	n/a
7	chr12:116971139-116971189	PrEC	prostate:	n/a
8	chr12:116971116-116971166	PrEC	prostate:	n/a
9	chr12:116971116-116971166	Hepatocyte	liver:	n/a
10	chr12:116971139-116971189	ECC-1	luminal epithelium:	n/a
11	chr12:116971139-116971189	Jurkat	blood:	n/a
12	chr12:116971116-116971166	HRPEpiC	eye:	n/a
13	chr12:116971116-116971166	NB4	blood:	n/a
14	chr12:116971139-116971189	HCPEpiC	choroid plexus:	n/a
15	chr12:116971116-116971166	SK-N-SH	brain:	n/a
16	chr12:116971139-116971189	AG04449	skin:	fetal
17	chr12:116971139-116971189	AG04450	lung:	fetal
18	chr12:116971139-116971189	HMEC	breast:	n/a
19	chr12:116971116-116971166	HMEC	breast:	n/a
20	chr12:116971139-116971189	K562	blood:	n/a
21	chr12:116971139-116971189	LNCaP	prostate:	n/a
22	chr12:116971139-116971189	GM12892	blood:	n/a
23	chr12:116971116-116971166	H1-hESC	embryonic stem cell:	embryo
24	chr12:116971139-116971189	HCT-116	colon:	n/a
25	chr12:116971139-116971189	HRCEpiC	kidney:	n/a
26	chr12:116971116-116971166	GM12891	blood:	n/a
27	chr12:116971139-116971189	ProgFib	skin:	n/a
28	chr12:116971116-116971166	HepG2	liver:	n/a
29	chr12:116971139-116971189	NB4	blood:	n/a
30	chr12:116971116-116971166	ECC-1	luminal epithelium:	n/a
31	chr12:116971139-116971189	HRPEpiC	eye:	n/a
32	chr12:116971116-116971166	LNCaP	prostate:	n/a
33	chr12:116971139-116971189	IMR90	lung:	fetal
34	chr12:116971116-116971166	HCM	heart:	n/a
35	chr12:116971116-116971166	GM12878	blood:	n/a
36	chr12:116971139-116971189	AG09319	gingival:	n/a
37	chr12:116971139-116971189	SK-N-SH_RA	brain:	n/a
38	chr12:116971116-116971166	NHDF-neo	bronchial:	n/a
39	chr12:116971139-116971189	U87	brain:	n/a
40	chr12:116971116-116971166	AG09319	gingival:	n/a
41	chr12:116971139-116971189	SKMC	muscle:	n/a
42	chr12:116971139-116971189	GM12878	blood:	n/a
43	chr12:116971116-116971166	GM12892	blood:	n/a
44	chr12:116971116-116971166	IMR90	lung:	fetal
45	chr12:116971116-116971166	HCT-116	colon:	n/a
46	chr12:116971116-116971166	U87	brain:	n/a
47	chr12:116971139-116971189	BJ	skin:	n/a
48	chr12:116971139-116971189	HUVEC	blood vessel:	n/a
49	chr12:116971116-116971166	HEEpiC	esophagus:	n/a
50	chr12:116971139-116971189	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:116968953..116973759-chr12:116995509..116998903,7	K562	blood:
2	chr12:116712747..116717142-chr12:116969029..116973550,6	MCF-7	breast:

Variant related genes	Relation type
LINC00173	TF binding region
LINC00173	CpG island
ENSG00000123066	Chromatin interaction
ENSG00000171471	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10774871	0.93[ASN][1000 genomes]
rs10774872	0.89[ASN][1000 genomes]
rs10850662	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10850663	0.93[ASN][1000 genomes]
rs11068062	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11068070	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11068075	0.83[ASN][1000 genomes]
rs11609040	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11609872	0.89[ASN][1000 genomes]
rs11610226	0.89[ASN][1000 genomes]
rs11615960	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1394801	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1394802	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2047952	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2089222	0.81[ASN][1000 genomes]
rs2102294	0.87[ASN][1000 genomes]
rs2893685	0.81[ASN][1000 genomes]
rs60521218	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6490075	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6490076	0.87[ASN][1000 genomes]
rs7297552	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7300418	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7304300	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7315385	0.87[ASN][1000 genomes]
rs7961538	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7969190	0.99[ASN][1000 genomes]
rs7969566	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7972701	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7976256	0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899540	chr12:116920503-116999861	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr12:116967200-116971400	Weak transcription	HSMMtube	muscle
2	chr12:116970000-116971200	Enhancers	Gastric	stomach
3	chr12:116970400-116971200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:116970400-116971200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:116970400-116971200	Enhancers	Fetal Muscle Trunk	muscle
6	chr12:116970400-116971200	Enhancers	Left Ventricle	heart
7	chr12:116970400-116971200	Enhancers	Spleen	Spleen
8	chr12:116970400-116971200	Flanking Active TSS	K562	blood
9	chr12:116970400-116971800	Enhancers	Lung	lung
10	chr12:116970400-116972000	Flanking Active TSS	Dnd41	blood
11	chr12:116970600-116971200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr12:116970600-116971200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:116970600-116971200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr12:116970600-116971200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr12:116970600-116971200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:116970600-116971200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr12:116970600-116971200	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr12:116970600-116971200	Enhancers	Small Intestine	intestine
19	chr12:116970600-116971200	Enhancers	Stomach Mucosa	stomach
20	chr12:116970600-116971600	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr12:116970600-116971600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:116970600-116971600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr12:116970600-116971600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr12:116970600-116971800	Flanking Active TSS	NHEK	skin
25	chr12:116970600-116972400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr12:116970600-116972400	Active TSS	Brain Hippocampus Middle	brain
27	chr12:116970600-116972800	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr12:116970800-116971200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:116970800-116971200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:116970800-116971200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:116970800-116971200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr12:116970800-116971200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:116970800-116971200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:116970800-116971200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr12:116970800-116971200	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr12:116970800-116971200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:116970800-116971200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:116970800-116971200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr12:116970800-116971200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:116970800-116971200	Enhancers	Aorta	Aorta
41	chr12:116970800-116971200	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr12:116970800-116971200	Flanking Active TSS	Colonic Mucosa	Colon
43	chr12:116970800-116971200	Enhancers	Placenta	Placenta
44	chr12:116970800-116971200	Flanking Active TSS	Thymus	Thymus
45	chr12:116970800-116971200	Bivalent Enhancer	HepG2	liver
46	chr12:116970800-116971400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr12:116970800-116971400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:116970800-116971600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:116970800-116971600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr12:116970800-116971600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood

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