Variant report

Variant	rs6471243
Chromosome Location	chr8:91656967-91656968
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	TBP	chr8:91656945-91657438	Hela-S3	cervix:	n/a	n/a
2	MYC	chr8:91656787-91658969	K562	blood:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
3	SIN3AK20	chr8:91654807-91658067	MCF-7	breast:	n/a	n/a
4	MAX	chr8:91656868-91659002	HCT-116	colon:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
5	CTCF	chr8:91656549-91659045	SK-N-SH	brain:	n/a	n/a
6	CEBPB	chr8:91656481-91657412	Hela-S3	cervix:	n/a	chr8:91656851-91656862
7	MXI1	chr8:91656257-91659013	IMR90	lung:	n/a	n/a
8	FOXM1	chr8:91656936-91657607	GM12878	blood:	n/a	n/a
9	SIN3AK20	chr8:91656302-91659215	MCF-7	breast:	n/a	n/a
10	MAX	chr8:91656946-91658977	A549	lung:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
11	JUND	chr8:91656948-91658885	MCF-7	breast:	n/a	chr8:91657083-91657095
12	REST	chr8:91656795-91658865	MCF-7	breast:	n/a	n/a
13	MAFK	chr8:91656465-91657397	IMR90	lung:	n/a	chr8:91656625-91656640 chr8:91656695-91656715 chr8:91656697-91656713 chr8:91656698-91656712
14	TBL1XR1	chr8:91656829-91657817	GM12878	blood:	n/a	n/a
15	POLR2A	chr8:91656902-91658983	Raji	blood:	n/a	n/a
16	TEAD4	chr8:91656963-91657541	K562	blood:	n/a	n/a
17	POLR2A	chr8:91651930-91659303	MCF-7	breast:	n/a	n/a
18	CTCF	chr8:91656958-91657588	MCF-7	breast:	n/a	n/a
19	SIN3A	chr8:91656397-91659016	H1-hESC	embryonic stem cell:	n/a	chr8:91658167-91658178 chr8:91658398-91658409 chr8:91658151-91658162
20	MXI1	chr8:91656305-91659242	SK-N-SH	brain:	n/a	n/a
21	RAD21	chr8:91656508-91657417	Hela-S3	cervix:	n/a	n/a
22	PBX3	chr8:91656966-91657573	SK-N-SH	brain:	n/a	n/a
23	SMC3	chr8:91656611-91657756	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr8:91656904-91658709	Hela-S3	cervix:	n/a	n/a
25	PML	chr8:91656754-91658980	MCF-7	breast:	n/a	chr8:91656975-91656983
26	POLR2A	chr8:91656921-91658806	HepG2	liver:	n/a	n/a
27	CHD1	chr8:91656615-91658627	GM12878	blood:	n/a	n/a
28	TAF1	chr8:91656828-91659450	MCF-7	breast:	n/a	n/a
29	TAF1	chr8:91656803-91657868	MCF-7	breast:	n/a	n/a
30	MAX	chr8:91656532-91658780	Hela-S3	cervix:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
31	ARID3A	chr8:91656927-91657438	HepG2	liver:	n/a	chr8:91657086-91657102
32	POLR2A	chr8:91656466-91658600	MCF10A-Er-Src	breast:	n/a	n/a
33	HDAC2	chr8:91656842-91658960	MCF-7	breast:	n/a	n/a
34	SIN3AK20	chr8:91656965-91658749	PANC-1	pancreas:	n/a	n/a
35	MAFK	chr8:91656092-91657931	Hela-S3	cervix:	n/a	chr8:91656625-91656640 chr8:91656695-91656715 chr8:91656697-91656713 chr8:91656698-91656712
36	MAX	chr8:91656848-91658047	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr8:91656915-91659122	H1-hESC	embryonic stem cell:	n/a	n/a
38	MXI1	chr8:91656860-91658607	GM12878	blood:	n/a	n/a
39	POLR2A	chr8:91655703-91659084	PBDE	blood:	n/a	n/a
40	TCF12	chr8:91656959-91657937	A549	lung:	n/a	n/a
41	POLR2A	chr8:91656417-91659146	GM12891	blood:	n/a	n/a
42	RCOR1	chr8:91656963-91657809	K562	blood:	n/a	n/a
43	RFX5	chr8:91656490-91657541	Hela-S3	cervix:	n/a	chr8:91656996-91657013 chr8:91656610-91656627
44	CHD1	chr8:91656074-91657883	H1-hESC	embryonic stem cell:	n/a	n/a
45	WRNIP1	chr8:91656883-91657416	GM12878	blood:	n/a	n/a
46	KAP1	chr8:91656935-91657788	HEK293	kidney:	n/a	chr8:91656975-91656983
47	ZC3H11A	chr8:91656936-91657356	K562	blood:	n/a	n/a
48	BHLHE40	chr8:91656721-91658749	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:90769811..90771678-chr8:91656094..91659219,3	MCF-7	breast:
2	chr8:91656931..91659194-chr8:91950733..91953046,3	MCF-7	breast:
3	chr8:90995523..90999017-chr8:91656346..91659175,4	K562	blood:
4	chr12:120729453..120731946-chr8:91656614..91658294,2	MCF-7	breast:
5	chr18:11850609..11852706-chr8:91655783..91658479,2	MCF-7	breast:
6	chr8:91654622..91657377-chr8:91792859..91795110,2	K562	blood:
7	chr8:90994579..90998162-chr8:91656500..91661270,5	K562	blood:
8	chr8:91656166..91658679-chr9:96213011..96215220,2	MCF-7	breast:
9	chr17:58468866..58470563-chr8:91656695..91658244,2	MCF-7	breast:
10	chr8:91656618..91662321-chr8:91871461..91875565,6	MCF-7	breast:
11	chr1:148551689..148553577-chr8:91655255..91657284,2	MCF-7	breast:
12	chr8:91656709..91659502-chr8:92055238..92057822,3	K562	blood:
13	chr17:58677174..58679477-chr8:91656621..91658384,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246792	TF binding region
ENSG00000255112	Chromatin interaction
ENSG00000170836	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000254219	Chromatin interaction
ENSG00000123119	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000141371	Chromatin interaction
ENSG00000254251	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000170832	Chromatin interaction
ENSG00000048828	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10086155	0.90[CHB][hapmap]
rs10090406	0.91[ASN][1000 genomes]
rs10091274	0.91[ASN][1000 genomes]
rs10808624	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs10808625	1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[ASN][1000 genomes]
rs10808626	0.91[ASN][1000 genomes]
rs10956763	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs10956764	0.85[CHB][hapmap]
rs1125502	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs11777332	0.90[ASN][1000 genomes]
rs12543806	0.85[ASN][1000 genomes]
rs13266461	0.84[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16905041	0.81[CEU][hapmap]
rs16905145	0.91[ASN][1000 genomes]
rs2339228	0.90[CHB][hapmap];0.89[CHD][hapmap]
rs2339230	0.84[CHD][hapmap]
rs28568272	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34753356	0.81[ASN][1000 genomes]
rs35547810	0.93[ASN][1000 genomes]
rs4236824	1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[ASN][1000 genomes]
rs4236825	1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[ASN][1000 genomes]
rs4236826	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs4236827	0.87[CHD][hapmap];0.81[ASN][1000 genomes]
rs4236828	0.91[ASN][1000 genomes]
rs4301409	0.90[ASN][1000 genomes]
rs4323436	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs4330649	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs4330650	1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[ASN][1000 genomes]
rs4332092	0.90[ASN][1000 genomes]
rs4335090	0.91[ASN][1000 genomes]
rs4335091	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs4338064	0.82[ASN][1000 genomes]
rs4376466	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs4377923	0.90[ASN][1000 genomes]
rs4377924	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs4442097	1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[ASN][1000 genomes]
rs4520126	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs4538831	1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[ASN][1000 genomes]
rs4606020	0.85[ASN][1000 genomes]
rs4637779	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs4642598	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs4735295	0.85[CEU][hapmap];0.83[ASN][1000 genomes]
rs4735306	0.91[ASN][1000 genomes]
rs4735308	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs4735309	1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[ASN][1000 genomes]
rs4735341	0.90[CHB][hapmap]
rs6471245	1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[ASN][1000 genomes]
rs6471248	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs6471249	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs6985723	0.85[ASN][1000 genomes]
rs6993648	1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[ASN][1000 genomes]
rs6994433	1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[ASN][1000 genomes]
rs6997009	0.85[CHB][hapmap];0.89[CHD][hapmap];0.80[ASN][1000 genomes]
rs6998736	0.89[CHB][hapmap];0.86[CHD][hapmap];0.82[ASN][1000 genomes]
rs7003026	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs7009348	0.85[ASN][1000 genomes]
rs7017260	0.91[ASN][1000 genomes]
rs7818125	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs7822742	0.84[CHB][hapmap];0.80[ASN][1000 genomes]
rs7832679	1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[ASN][1000 genomes]
rs7835610	0.85[CHB][hapmap];0.89[CHD][hapmap];0.80[ASN][1000 genomes]
rs7839617	1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[ASN][1000 genomes]
rs7840113	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs885497	1.00[CHB][hapmap];0.90[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	esv1827745	chr8:91623737-91660193	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91643200-91657200	Weak transcription	Gastric	stomach
2	chr8:91652200-91659400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr8:91653400-91657000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
4	chr8:91653800-91657000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr8:91654000-91657800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:91654000-91659200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:91654000-91659400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr8:91654200-91657800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:91654200-91659000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:91654400-91657400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:91654400-91659600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr8:91654800-91657000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:91654800-91657800	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr8:91655000-91657000	Flanking Active TSS	Fetal Kidney	kidney
15	chr8:91655000-91659000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:91655000-91659400	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr8:91655200-91658600	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr8:91655200-91658800	Active TSS	Fetal Intestine Large	intestine
19	chr8:91655200-91658800	Active TSS	K562	blood
20	chr8:91655200-91659200	Active TSS	HSMMtube	muscle
21	chr8:91655400-91657000	Flanking Active TSS	HUVEC	blood vessel
22	chr8:91655400-91657200	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr8:91655400-91657200	Flanking Active TSS	Osteobl	bone
24	chr8:91655400-91658600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:91655400-91658800	Active TSS	Right Ventricle	heart
26	chr8:91655400-91659000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:91655600-91657000	Active TSS	HepG2	liver
28	chr8:91655600-91657200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:91655600-91657200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:91655600-91657800	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr8:91655600-91658400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:91655600-91658600	Active TSS	H1 Cell Line	embryonic stem cell
33	chr8:91655600-91658600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:91655600-91658600	Active TSS	GM12878-XiMat	blood
35	chr8:91655600-91658600	Active TSS	HMEC	breast
36	chr8:91655600-91658800	Active TSS	NHDF-Ad	bronchial
37	chr8:91655600-91659000	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr8:91655600-91659000	Active TSS	HSMM	muscle
39	chr8:91655600-91659000	Active TSS	NHLF	lung
40	chr8:91655800-91657000	Weak transcription	Pancreas	Pancrea
41	chr8:91655800-91657200	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr8:91655800-91657200	Weak transcription	Spleen	Spleen
43	chr8:91655800-91657400	Active TSS	Placenta	Placenta
44	chr8:91655800-91657400	Active TSS	Stomach Smooth Muscle	stomach
45	chr8:91655800-91658800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr8:91655800-91658800	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr8:91655800-91658800	Active TSS	Fetal Muscle Leg	muscle
48	chr8:91655800-91659000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:91655800-91659000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:91655800-91659000	Active TSS	Psoas Muscle	Psoas

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