Variant report

Variant	rs12526265
Chromosome Location	chr6:80713641-80713642
allele	G/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	chr6:80713420-80714719	HEK293	kidney:	n/a	n/a
2	MAZ	chr6:80713294-80715039	IMR90	lung:	n/a	chr6:80713708-80713718 chr6:80713594-80713603
3	KAP1	chr6:80713301-80715345	HEK293	kidney:	n/a	n/a
4	POLR2A	chr6:80713261-80714856	GM19099	blood:	n/a	n/a
5	SIN3A	chr6:80713506-80715180	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3AK20	chr6:80713638-80714872	MCF-7	breast:	n/a	n/a
7	POLR2A	chr6:80713388-80714834	HL-60	blood:	n/a	n/a
8	MAX	chr6:80713322-80714878	NB4	blood:	n/a	chr6:80713708-80713718 chr6:80713594-80713603
9	POLR2A	chr6:80713516-80714697	PFSK-1	brain:	n/a	n/a
10	CHD1	chr6:80713626-80714116	GM12878	blood:	n/a	n/a
11	WRNIP1	chr6:80713199-80714075	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:80713036-80715077	GM12878	blood:	n/a	n/a
13	MXI1	chr6:80713571-80715375	IMR90	lung:	n/a	n/a
14	POLR2A	chr6:80713561-80714738	HCT-116	colon:	n/a	n/a
15	POLR2A	chr6:80713585-80714869	GM15510	blood:	n/a	n/a
16	E2F4	chr6:80713236-80716364	MCF10A-Er-Src	breast:	n/a	chr6:80713962-80713969 chr6:80715312-80715321 chr6:80713962-80713969 chr6:80714200-80714210 chr6:80713962-80713969 chr6:80715314-80715323
17	POLR2A	chr6:80713397-80715072	HepG2	liver:	n/a	n/a
18	MYC	chr6:80713301-80715029	NB4	blood:	n/a	chr6:80713708-80713718 chr6:80713594-80713603
19	POLR2A	chr6:80713597-80714873	GM18951	blood:	n/a	n/a
20	POLR2A	chr6:80713431-80714831	GM19193	blood:	n/a	n/a
21	POLR2A	chr6:80713607-80714721	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr6:80713637-80714889	K562	blood:	n/a	n/a
23	GABPA	chr6:80713612-80714717	MCF-7	breast:	n/a	chr6:80714450-80714464
24	POLR2A	chr6:80713277-80714887	HL-60	blood:	n/a	n/a
25	SIN3AK20	chr6:80713326-80715070	MCF-7	breast:	n/a	n/a
26	POLR2A	chr6:80713220-80714622	H1-neurons	neurons:	n/a	n/a
27	MXI1	chr6:80713551-80714820	GM12878	blood:	n/a	n/a
28	REST	chr6:80713263-80714702	H1-neurons	neurons:	n/a	chr6:80714043-80714056 chr6:80714046-80714059
29	POLR2A	chr6:80713493-80714813	GM12892	blood:	n/a	n/a
30	POLR2A	chr6:80713528-80714911	K562	blood:	n/a	n/a
31	POLR2A	chr6:80713500-80715079	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr6:80713515-80714774	SK-N-SH	brain:	n/a	chr6:80713708-80713718 chr6:80713594-80713603
33	HA-E2F1	chr6:80713374-80714751	MCF-7	breast:	n/a	chr6:80713962-80713969 chr6:80713962-80713969 chr6:80714200-80714210 chr6:80713962-80713969
34	POLR2A	chr6:80713363-80714599	IMR90	lung:	n/a	n/a
35	POLR2A	chr6:80713290-80714825	SK-N-MC	brain:	n/a	n/a
36	POLR2A	chr6:80713417-80714848	NB4	blood:	n/a	n/a
37	RUNX3	chr6:80713379-80714820	GM12878	blood:	n/a	n/a
38	POLR2A	chr6:80713472-80714859	GM18526	blood:	n/a	n/a
39	RELA	chr6:80713213-80714934	GM15510	blood:	n/a	chr6:80714142-80714151 chr6:80714142-80714151
40	POLR2A	chr6:80713346-80714567	GM12878	blood:	n/a	n/a
41	MAX	chr6:80713283-80714744	GM12878	blood:	n/a	chr6:80713708-80713718 chr6:80713594-80713603
42	POLR2A	chr6:80713605-80714784	ProgFib	skin:	n/a	n/a
43	POLR2A	chr6:80713365-80714734	Hela-S3	cervix:	n/a	n/a
44	MXI1	chr6:80713176-80715124	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr6:80713208-80715469	GM12891	blood:	n/a	n/a
46	POLR2A	chr6:80713503-80714644	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr6:80713620-80713770	GM06990	blood:	n/a	n/a
48	CTCF	chr6:80713560-80713710	GM12872	blood:	n/a	n/a
49	EP300	chr6:80713458-80714557	GM12878	blood:	n/a	n/a
50	CREB1	chr6:80713557-80714776	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:80713632-80713682	GM12891	blood:	n/a
2	chr6:80713632-80713682	Caco-2	colon:	n/a
3	chr6:80713632-80713682	HAEpiC	amniotic membrane:	n/a
4	chr6:80713632-80713682	HCPEpiC	choroid plexus:	n/a
5	chr6:80713632-80713682	AoSMC	blood vessel:	n/a
6	chr6:80713632-80713682	SK-N-SH_RA	brain:	n/a
7	chr6:80713632-80713682	GM12892	blood:	n/a
8	chr6:80713632-80713682	HPAEpiC	pulmonary alveolar:	n/a
9	chr6:80713632-80713682	GM19239	blood:	n/a
10	chr6:80713632-80713682	HRCEpiC	kidney:	n/a
11	chr6:80713632-80713682	A549	lung:	n/a
12	chr6:80713632-80713682	K562	blood:	n/a
13	chr6:80713632-80713682	HUVEC	blood vessel:	n/a
14	chr6:80713632-80713682	HCF	heart:	n/a
15	chr6:80713632-80713682	BJ	skin:	n/a
16	chr6:80713632-80713682	GM12878	blood:	n/a
17	chr6:80713632-80713682	LNCaP	prostate:	n/a
18	chr6:80713632-80713682	AG04449	skin:	fetal
19	chr6:80713632-80713682	HCT-116	colon:	n/a
20	chr6:80713632-80713682	HRE	kidney:	n/a
21	chr6:80713632-80713682	ProgFib	skin:	n/a
22	chr6:80713632-80713682	MCF10A-Er-Src	breast:	n/a
23	chr6:80713632-80713682	HMEC	breast:	n/a
24	chr6:80713632-80713682	NT2-D1	testis:	n/a
25	chr6:80713632-80713682	HNPCEpiC	eye:	n/a
26	chr6:80713632-80713682	IMR90	lung:	fetal
27	chr6:80713632-80713682	NHDF-neo	bronchial:	n/a
28	chr6:80713632-80713682	H1-hESC	embryonic stem cell:	embryo
29	chr6:80713632-80713682	SAEC	small airway:	n/a
30	chr6:80713632-80713682	HEK293	kidney:	embryo
31	chr6:80713632-80713682	ECC-1	luminal epithelium:	n/a
32	chr6:80713632-80713682	HIPEpiC	eye:	n/a
33	chr6:80713632-80713682	PrEC	prostate:	n/a
34	chr6:80713632-80713682	HL-60	blood:	n/a
35	chr6:80713632-80713682	RPTEC	kidney:	n/a
36	chr6:80713632-80713682	PFSK-1	brain:	n/a
37	chr6:80713632-80713682	HEEpiC	esophagus:	n/a
38	chr6:80713632-80713682	HepG2	liver:	n/a
39	chr6:80713632-80713682	NHBE	bronchial:	n/a
40	chr6:80713632-80713682	AG04450	lung:	fetal
41	chr6:80713632-80713682	HCM	heart:	n/a
42	chr6:80713632-80713682	AG10803	skin:	n/a
43	chr6:80713632-80713682	Hepatocyte	liver:	n/a
44	chr6:80713632-80713682	SK-N-MC	brain:	n/a
45	chr6:80713632-80713682	AG09309	skin:	n/a
46	chr6:80713632-80713682	SKMC	muscle:	n/a
47	chr6:80713632-80713682	PANC-1	pancreas:	n/a
48	chr6:80713632-80713682	U87	brain:	n/a
49	chr6:80713632-80713682	BE2_C	brain:	n/a
50	chr6:80713632-80713682	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38375504..38376129-chr6:80713334..80714172,2	Hela-S3	cervix:
2	chr6:80656144..80658220-chr6:80712686..80714230,2	K562	blood:

Variant related genes	Relation type
TTK	TF binding region
TTK	CpG island
ENSG00000171475	Chromatin interaction
ENSG00000118402	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10943681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10943682	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10943688	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1205578	0.93[ASN][1000 genomes]
rs1410521	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1410522	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs151642	0.95[ASN][1000 genomes]
rs151645	0.85[ASN][1000 genomes]
rs151657	0.91[ASN][1000 genomes]
rs151660	0.93[ASN][1000 genomes]
rs1897870	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1927425	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1927426	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2149082	0.83[EUR][1000 genomes]
rs2181070	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2295838	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295840	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2295841	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs239495	0.86[ASN][1000 genomes]
rs239497	0.93[ASN][1000 genomes]
rs239500	0.95[ASN][1000 genomes]
rs239560	0.93[ASN][1000 genomes]
rs239578	0.91[ASN][1000 genomes]
rs240214	0.96[ASN][1000 genomes]
rs240217	0.96[ASN][1000 genomes]
rs240218	0.96[ASN][1000 genomes]
rs2757084	0.91[ASN][1000 genomes]
rs2769337	0.93[ASN][1000 genomes]
rs3799497	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3812151	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3967160	0.81[EUR][1000 genomes]
rs465483	0.96[ASN][1000 genomes]
rs4706108	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4706826	0.90[ASN][1000 genomes]
rs4706827	0.83[EUR][1000 genomes]
rs587984	0.93[ASN][1000 genomes]
rs652752	0.93[ASN][1000 genomes]
rs666040	0.93[ASN][1000 genomes]
rs6925415	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9294168	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9341801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9341802	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9341803	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9343961	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9343965	0.84[EUR][1000 genomes]
rs9350843	0.88[EUR][1000 genomes]
rs9352790	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9352797	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9359406	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9448877	0.90[ASN][1000 genomes]
rs9448880	0.81[EUR][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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80712600-80714000	Flanking Active TSS	Dnd41	blood
2	chr6:80712600-80714600	Active TSS	Rectal Smooth Muscle	rectum
3	chr6:80713000-80714000	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr6:80713000-80714600	Active TSS	Brain Angular Gyrus	brain
5	chr6:80713200-80713800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:80713200-80713800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
7	chr6:80713200-80713800	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr6:80713200-80713800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:80713200-80713800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:80713200-80713800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
11	chr6:80713200-80713800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
12	chr6:80713200-80713800	Flanking Active TSS	Fetal Intestine Small	intestine
13	chr6:80713200-80713800	Flanking Active TSS	Fetal Thymus	thymus
14	chr6:80713200-80714000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:80713200-80714000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr6:80713200-80714000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:80713200-80714000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:80713200-80714000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:80713200-80714000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:80713200-80714000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr6:80713200-80714000	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr6:80713200-80714000	Flanking Active TSS	GM12878-XiMat	blood
23	chr6:80713200-80714000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr6:80713200-80714000	Flanking Active TSS	NHEK	skin
25	chr6:80713200-80714000	Flanking Active TSS	Osteobl	bone
26	chr6:80713200-80714200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:80713200-80714600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:80713200-80714600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:80713200-80714600	Active TSS	Brain Substantia Nigra	brain
30	chr6:80713200-80714600	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr6:80713200-80715200	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr6:80713200-80715400	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr6:80713200-80715400	Active TSS	NHDF-Ad	bronchial
34	chr6:80713200-80715600	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr6:80713400-80713800	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr6:80713400-80713800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr6:80713400-80713800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr6:80713400-80713800	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr6:80713400-80713800	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr6:80713400-80713800	Flanking Active TSS	Fetal Muscle Trunk	muscle
41	chr6:80713400-80713800	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr6:80713400-80713800	Flanking Active TSS	Pancreas	Pancrea
43	chr6:80713400-80713800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr6:80713400-80713800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr6:80713400-80713800	Enhancers	Spleen	Spleen
46	chr6:80713400-80714000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr6:80713400-80714000	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr6:80713400-80714000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:80713400-80714000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr6:80713400-80714000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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