Variant report

Variant	rs7969566
Chromosome Location	chr12:116971205-116971206
allele	A/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	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	POU2F2	chr12:116971144-116971597	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:116971161-116971598	GM12892	blood:	n/a	n/a
10	POLR2A	chr12:116971162-116971560	GM12878	blood:	n/a	n/a
11	MAX	chr12:116970837-116971487	ECC-1	luminal epithelium:	n/a	chr12:116971137-116971147 chr12:116971149-116971158
12	TBP	chr12:116970742-116971487	K562	blood:	n/a	n/a
13	MYC	chr12:116970397-116972371	K562	blood:	n/a	chr12:116970552-116970561 chr12:116971137-116971147 chr12:116971149-116971158
14	MAX	chr12:116970339-116971596	K562	blood:	n/a	chr12:116970552-116970561 chr12:116971137-116971147 chr12:116971149-116971158
15	POU2F2	chr12:116971163-116971559	GM12891	blood:	n/a	n/a
16	REST	chr12:116971013-116972150	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr12:116970910-116971532	PANC-1	pancreas:	n/a	n/a
18	TBL1XR1	chr12:116971201-116971542	GM12878	blood:	n/a	n/a
19	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
20	MAX	chr12:116970751-116971497	H1-hESC	embryonic stem cell:	n/a	chr12:116971137-116971147 chr12:116971149-116971158
21	RAD21	chr12:116971199-116971954	IMR90	lung:	n/a	n/a
22	YY1	chr12:116971161-116971327	K562	blood:	n/a	chr12:116971184-116971193
23	EP300	chr12:116970724-116973137	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr12:116970869-116971444	K562	blood:	n/a	n/a
25	REST	chr12:116970601-116973294	H1-neurons	neurons:	n/a	n/a
26	TCF12	chr12:116970532-116972572	A549	lung:	n/a	n/a
27	MAX	chr12:116970339-116972111	A549	lung:	n/a	chr12:116970552-116970561 chr12:116971137-116971147 chr12:116971149-116971158
28	JUND	chr12:116970756-116971482	K562	blood:	n/a	n/a
29	MYC	chr12:116970392-116972000	K562	blood:	n/a	chr12:116970552-116970561 chr12:116971137-116971147 chr12:116971149-116971158
30	POLR2A	chr12:116971176-116971652	GM12878	blood:	n/a	n/a
31	POLR2A	chr12:116970347-116971938	HCT-116	colon:	n/a	n/a
32	POLR2A	chr12:116970838-116972023	K562	blood:	n/a	n/a
33	TAF1	chr12:116970800-116972153	H1-neurons	neurons:	n/a	n/a
34	MTA3	chr12:116971138-116971657	GM12878	blood:	n/a	n/a
35	MAZ	chr12:116970934-116972685	K562	blood:	n/a	chr12:116971137-116971147 chr12:116971149-116971158
36	POLR2A	chr12:116971162-116971493	SK-N-SH	brain:	n/a	n/a
37	HCFC1	chr12:116970958-116971557	K562	blood:	n/a	n/a
38	POLR2A	chr12:116971126-116972081	GM12878	blood:	n/a	n/a
39	MAZ	chr12:116970669-116972872	IMR90	lung:	n/a	chr12:116971137-116971147 chr12:116971149-116971158
40	ZNF143	chr12:116971045-116971439	GM12878	blood:	n/a	n/a
41	POLR2A	chr12:116970775-116972041	GM12892	blood:	n/a	n/a
42	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
43	STAT5A	chr12:116971192-116971571	GM12878	blood:	n/a	n/a
44	POLR2A	chr12:116970743-116971974	SK-N-MC	brain:	n/a	n/a
45	E2F6	chr12:116970476-116971427	K562	blood:	n/a	chr12:116971136-116971145 chr12:116971184-116971193 chr12:116971179-116971189
46	HMGN3	chr12:116971139-116971907	K562	blood:	n/a	n/a
47	MAZ	chr12:116970982-116972412	GM12878	blood:	n/a	chr12:116971137-116971147 chr12:116971149-116971158
48	MYC	chr12:116970840-116971557	NB4	blood:	n/a	chr12:116971137-116971147 chr12:116971149-116971158
49	POLR2A	chr12:116970938-116972046	GM12892	blood:	n/a	n/a
50	POLR2A	chr12:116970916-116973077	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:116971165-116971215	PrEC	prostate:	n/a
2	chr12:116971165-116971215	T-47D	breast:	n/a
3	chr12:116971165-116971215	Jurkat	blood:	n/a
4	chr12:116971165-116971215	HRCEpiC	kidney:	n/a
5	chr12:116971165-116971215	HepG2	liver:	n/a
6	chr12:116971165-116971215	HCPEpiC	choroid plexus:	n/a
7	chr12:116971165-116971215	SK-N-SH_RA	brain:	n/a
8	chr12:116971165-116971215	SKMC	muscle:	n/a
9	chr12:116971165-116971215	A549	lung:	n/a
10	chr12:116971165-116971215	HAEpiC	amniotic membrane:	n/a
11	chr12:116971165-116971215	PANC-1	pancreas:	n/a
12	chr12:116971165-116971215	K562	blood:	n/a
13	chr12:116971165-116971215	HCT-116	colon:	n/a
14	chr12:116971165-116971215	BJ	skin:	n/a
15	chr12:116971165-116971215	SK-N-MC	brain:	n/a
16	chr12:116971165-116971215	GM12878	blood:	n/a
17	chr12:116971165-116971215	GM06990	blood:	n/a
18	chr12:116971165-116971215	NT2-D1	testis:	n/a
19	chr12:116971165-116971215	HEK293	kidney:	embryo
20	chr12:116971165-116971215	HCF	heart:	n/a
21	chr12:116971165-116971215	AG04450	lung:	fetal
22	chr12:116971165-116971215	HEEpiC	esophagus:	n/a
23	chr12:116971165-116971215	HIPEpiC	eye:	n/a
24	chr12:116971165-116971215	BE2_C	brain:	n/a
25	chr12:116971165-116971215	ProgFib	skin:	n/a
26	chr12:116971165-116971215	NB4	blood:	n/a
27	chr12:116971165-116971215	AoSMC	blood vessel:	n/a
28	chr12:116971165-116971215	MCF10A-Er-Src	breast:	n/a
29	chr12:116971165-116971215	Caco-2	colon:	n/a
30	chr12:116971165-116971215	MCF-7	breast:	n/a
31	chr12:116971165-116971215	Hela-S3	cervix:	n/a
32	chr12:116971165-116971215	Hepatocyte	liver:	n/a
33	chr12:116971165-116971215	AG09319	gingival:	n/a
34	chr12:116971165-116971215	H1-hESC	embryonic stem cell:	embryo
35	chr12:116971165-116971215	GM12891	blood:	n/a
36	chr12:116971165-116971215	AG09309	skin:	n/a
37	chr12:116971165-116971215	PFSK-1	brain:	n/a
38	chr12:116971165-116971215	GM12892	blood:	n/a
39	chr12:116971165-116971215	SK-N-SH	brain:	n/a
40	chr12:116971165-116971215	HL-60	blood:	n/a
41	chr12:116971165-116971215	HMEC	breast:	n/a
42	chr12:116971165-116971215	NHBE	bronchial:	n/a
43	chr12:116971165-116971215	AG04449	skin:	fetal
44	chr12:116971165-116971215	HCM	heart:	n/a
45	chr12:116971165-116971215	CMK	blood:	n/a
46	chr12:116971165-116971215	HUVEC	blood vessel:	n/a
47	chr12:116971165-116971215	NHDF-neo	bronchial:	n/a
48	chr12:116971165-116971215	HNPCEpiC	eye:	n/a
49	chr12:116971165-116971215	HPAEpiC	pulmonary alveolar:	n/a
50	chr12:116971165-116971215	AG10803	skin:	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
ENSG00000171471	Chromatin interaction
ENSG00000123066	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	0.82[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774872	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10850662	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10850663	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068070	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11068075	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11609040	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11609872	0.93[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11610226	0.82[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11615960	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1394801	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1394802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2047952	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2089222	0.86[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2102294	0.82[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2893685	0.82[ASN][1000 genomes]
rs60521218	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6490075	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6490076	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7297552	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7300418	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7304300	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7315385	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7954181	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7961538	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7969190	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972701	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7976256	0.87[EUR][1000 genomes];0.92[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116967200-116971400	Weak transcription	HSMMtube	muscle
2	chr12:116970400-116971800	Enhancers	Lung	lung
3	chr12:116970400-116972000	Flanking Active TSS	Dnd41	blood
4	chr12:116970600-116971600	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr12:116970600-116971600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:116970600-116971600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr12:116970600-116971600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr12:116970600-116971800	Flanking Active TSS	NHEK	skin
9	chr12:116970600-116972400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr12:116970600-116972400	Active TSS	Brain Hippocampus Middle	brain
11	chr12:116970600-116972800	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr12:116970800-116971400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr12:116970800-116971400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:116970800-116971600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:116970800-116971600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr12:116970800-116971600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
17	chr12:116970800-116971600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:116970800-116971600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:116970800-116971600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr12:116970800-116971600	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr12:116970800-116971600	Flanking Active TSS	Liver	Liver
22	chr12:116970800-116971600	Flanking Active TSS	Fetal Brain Male	brain
23	chr12:116970800-116971600	Flanking Active TSS	Fetal Thymus	thymus
24	chr12:116970800-116971600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr12:116970800-116971600	Flanking Active TSS	Right Ventricle	heart
26	chr12:116970800-116971600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr12:116970800-116971600	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr12:116970800-116971600	Flanking Active TSS	Hela-S3	cervix
29	chr12:116970800-116971800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr12:116970800-116971800	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr12:116970800-116972400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:116970800-116972400	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr12:116970800-116972400	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr12:116970800-116972400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:116970800-116972400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr12:116970800-116972600	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr12:116970800-116972600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr12:116970800-116972800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:116971000-116971400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr12:116971000-116971600	Flanking Active TSS	HMEC	breast
41	chr12:116971000-116971800	Enhancers	Fetal Heart	heart
42	chr12:116971000-116972000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr12:116971000-116972200	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr12:116971000-116972200	Active TSS	Primary B cells from peripheral blood	blood
45	chr12:116971000-116972200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:116971000-116972200	Active TSS	Brain Cingulate Gyrus	brain
47	chr12:116971000-116972200	Active TSS	Duodenum Mucosa	Duodenum
48	chr12:116971000-116972200	Active TSS	A549	lung
49	chr12:116971000-116972200	Active TSS	NH-A	brain
50	chr12:116971000-116972400	Active TSS	H1 Cell Line	embryonic stem cell

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