Variant report

Variant	rs12209186
Chromosome Location	chr6:101329281-101329282
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	CHD1	chr6:101327624-101330167	IMR90	lung:	n/a	chr6:101329312-101329322
2	TAF1	chr6:101328642-101329591	GM12878	blood:	n/a	n/a
3	YY1	chr6:101328870-101329468	GM12891	blood:	n/a	chr6:101329206-101329220 chr6:101329371-101329380 chr6:101328888-101328897
4	E2F6	chr6:101328990-101329520	K562	blood:	n/a	chr6:101329287-101329296 chr6:101329369-101329379 chr6:101329109-101329124 chr6:101329209-101329219 chr6:101329312-101329323 chr6:101329306-101329315
5	BRCA1	chr6:101329003-101329597	Hela-S3	cervix:	n/a	n/a
6	YY1	chr6:101329009-101329506	K562	blood:	n/a	chr6:101329206-101329220 chr6:101329371-101329380
7	POLR2A	chr6:101328825-101329646	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr6:101328673-101329490	H1-hESC	embryonic stem cell:	n/a	n/a
9	TCF12	chr6:101328779-101329687	ECC-1	luminal epithelium:	n/a	chr6:101328877-101328887 chr6:101329000-101329007
10	POLR2A	chr6:101328760-101329659	HUVEC	blood vessel:	n/a	n/a
11	NFIC	chr6:101328768-101329678	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:101328736-101329590	GM10847	blood:	n/a	n/a
13	MYC	chr6:101328745-101329518	MCF-7	breast:	n/a	chr6:101329314-101329324 chr6:101329135-101329142
14	RFX5	chr6:101328987-101329484	HepG2	liver:	n/a	n/a
15	TFAP2C	chr6:101328521-101329725	Hela-S3	cervix:	n/a	chr6:101329383-101329398
16	TRIM28	chr6:101328935-101329647	K562	blood:	n/a	n/a
17	BCLAF1	chr6:101328965-101329677	GM12878	blood:	n/a	chr6:101329234-101329247
18	RUNX3	chr6:101328527-101329738	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:101328952-101329607	H1-hESC	embryonic stem cell:	n/a	n/a
20	HEY1	chr6:101328736-101329586	K562	blood:	n/a	chr6:101329303-101329318 chr6:101329233-101329248
21	ETS1	chr6:101328793-101329458	K562	blood:	n/a	chr6:101329369-101329380
22	POLR2A	chr6:101328597-101329763	K562	blood:	n/a	n/a
23	SMC3	chr6:101328620-101330270	Hela-S3	cervix:	n/a	n/a
24	HEY1	chr6:101328927-101329520	K562	blood:	n/a	chr6:101329303-101329318 chr6:101329233-101329248
25	TAF1	chr6:101328947-101329614	K562	blood:	n/a	n/a
26	POLR2A	chr6:101328314-101329672	IMR90	lung:	n/a	n/a
27	CCNT2	chr6:101328683-101329932	K562	blood:	n/a	chr6:101328716-101328725
28	YY1	chr6:101328799-101329510	GM12878	blood:	n/a	chr6:101329206-101329220 chr6:101329371-101329380 chr6:101328888-101328897
29	CEBPB	chr6:101328260-101329660	Hela-S3	cervix:	n/a	chr6:101328477-101328488 chr6:101328477-101328490 chr6:101328449-101328460 chr6:101328479-101328488 chr6:101328479-101328488 chr6:101328479-101328488 chr6:101328477-101328490
30	ZBTB7A	chr6:101328630-101329317	ECC-1	luminal epithelium:	n/a	n/a
31	CHD2	chr6:101328796-101329544	H1-hESC	embryonic stem cell:	n/a	chr6:101329312-101329322
32	POLR2A	chr6:101328647-101330043	GM12892	blood:	n/a	n/a
33	HDAC2	chr6:101328947-101329535	HepG2	liver:	n/a	chr6:101329294-101329303
34	HMGN3	chr6:101328735-101329944	K562	blood:	n/a	n/a
35	TAF1	chr6:101328842-101329660	A549	lung:	n/a	n/a
36	EGR1	chr6:101329093-101329445	K562	blood:	n/a	chr6:101329294-101329303
37	HEY1	chr6:101328979-101329516	HepG2	liver:	n/a	chr6:101329303-101329318 chr6:101329233-101329248
38	POLR2A	chr6:101328816-101329684	H1-hESC	embryonic stem cell:	n/a	n/a
39	TCF12	chr6:101329237-101329442	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr6:101328637-101329581	GM12892	blood:	n/a	n/a
41	EGR1	chr6:101328902-101329478	GM12878	blood:	n/a	chr6:101328921-101328935 chr6:101329294-101329303
42	TEAD4	chr6:101329134-101329628	K562	blood:	n/a	n/a
43	FOXM1	chr6:101328543-101329676	GM12878	blood:	n/a	n/a
44	REST	chr6:101329229-101329494	A549	lung:	n/a	n/a
45	EP300	chr6:101329157-101329466	SK-N-SH_RA	brain:	n/a	chr6:101329229-101329245 chr6:101329370-101329379
46	POLR2A	chr6:101328690-101329591	ECC-1	luminal epithelium:	n/a	n/a
47	ARID3A	chr6:101329171-101329282	K562	blood:	n/a	n/a
48	POLR2A	chr6:101328897-101329539	HCT-116	colon:	n/a	n/a
49	TCF12	chr6:101328750-101329770	A549	lung:	n/a	chr6:101328877-101328887 chr6:101329000-101329007
50	IRF1	chr6:101328604-101330135	K562	blood:	n/a	chr6:101328614-101328628 chr6:101328999-101329013 chr6:101328998-101329010 chr6:101329305-101329319 chr6:101329005-101329019 chr6:101328823-101328832 chr6:101328997-101329017 chr6:101329762-101329772 chr6:101328861-101328875

No.	Distal block	Cell Line	Cell type
1	chr6:101327181..101330084-chr6:117801293..117803939,2	K562	blood:
2	chr4:124242..124909-chr6:101328965..101329469,2	NB4	blood:
3	chr6:101328677..101332841-chr6:101334376..101338552,5	K562	blood:
4	chr6:101326886..101330925-chr6:101337161..101339877,4	MCF-7	breast:
5	chr20:60970535..60972970-chr6:101328486..101330061,2	MCF-7	breast:

Variant related genes	Relation type
ASCC3	TF binding region
ENSG00000260000	TF binding region
ENSG00000149679	Chromatin interaction
ENSG00000250312	Chromatin interaction
ENSG00000270987	Chromatin interaction
ENSG00000164465	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10485296	0.98[EUR][1000 genomes]
rs11155708	0.93[ASN][1000 genomes]
rs11755579	0.91[ASN][1000 genomes]
rs11758174	0.95[ASN][1000 genomes]
rs13193416	0.93[ASN][1000 genomes]
rs13205402	0.82[ASN][1000 genomes]
rs13212730	0.82[ASN][1000 genomes]
rs13220881	0.83[ASN][1000 genomes]
rs17672397	0.93[ASN][1000 genomes]
rs1813223	0.96[ASN][1000 genomes]
rs2004276	0.85[ASN][1000 genomes]
rs2398247	0.83[ASN][1000 genomes]
rs34555037	0.95[ASN][1000 genomes]
rs34716527	0.93[ASN][1000 genomes]
rs4840157	0.95[ASN][1000 genomes]
rs4840160	0.83[ASN][1000 genomes]
rs4840164	0.82[ASN][1000 genomes]
rs596596	0.82[EUR][1000 genomes]
rs62420689	0.80[ASN][1000 genomes]
rs62422111	0.93[ASN][1000 genomes]
rs626120	0.82[EUR][1000 genomes]
rs643030	0.80[EUR][1000 genomes]
rs669543	0.82[ASN][1000 genomes]
rs672410	0.80[EUR][1000 genomes]
rs672437	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6917195	0.93[ASN][1000 genomes]
rs694418	0.82[ASN][1000 genomes]
rs7758630	0.82[ASN][1000 genomes]
rs846774	0.98[EUR][1000 genomes]
rs846787	0.98[EUR][1000 genomes]
rs9322270	0.84[ASN][1000 genomes]
rs9322271	0.85[ASN][1000 genomes]
rs9322276	0.83[ASN][1000 genomes]
rs9377236	0.93[ASN][1000 genomes]
rs9377240	0.95[ASN][1000 genomes]
rs9377241	0.96[ASN][1000 genomes]
rs9386258	0.93[ASN][1000 genomes]
rs9390698	0.93[ASN][1000 genomes]
rs9399695	0.93[ASN][1000 genomes]
rs9399697	0.91[ASN][1000 genomes]
rs9404059	0.96[ASN][1000 genomes]
rs9404060	0.85[ASN][1000 genomes]
rs979122	0.96[ASN][1000 genomes]
rs9791225	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1020692	chr6:101136992-101426071	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886457	chr6:101158950-101487473	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv1019213	chr6:101225650-101623140	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv538391	chr6:101225650-101623140	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv2763587	chr6:101277874-101510491	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr6:101326600-101330200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:101327000-101329800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr6:101327000-101330200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:101327200-101329800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:101327200-101330000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:101327400-101329800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:101327400-101330200	Active TSS	A549	lung
8	chr6:101327400-101330200	Active TSS	HSMM	muscle
9	chr6:101327400-101330200	Active TSS	NHDF-Ad	bronchial
10	chr6:101327400-101330200	Active TSS	NHLF	lung
11	chr6:101327400-101330600	Active TSS	GM12878-XiMat	blood
12	chr6:101327400-101330800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr6:101327800-101329800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:101327800-101329800	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr6:101327800-101329800	Active TSS	Rectal Smooth Muscle	rectum
16	chr6:101327800-101330400	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr6:101328000-101329400	Active TSS	Fetal Thymus	thymus
18	chr6:101328000-101329600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:101328000-101329800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:101328000-101329800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:101328000-101329800	Active TSS	Brain Angular Gyrus	brain
22	chr6:101328000-101329800	Active TSS	Brain Cingulate Gyrus	brain
23	chr6:101328000-101329800	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr6:101328000-101329800	Active TSS	HMEC	breast
25	chr6:101328000-101329800	Active TSS	Osteobl	bone
26	chr6:101328000-101330000	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr6:101328000-101330000	Active TSS	Brain Germinal Matrix	brain
28	chr6:101328000-101330000	Active TSS	K562	blood
29	chr6:101328000-101330200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr6:101328000-101330200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:101328000-101330200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:101328000-101330400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:101328200-101329600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:101328200-101329600	Active TSS	Primary T cells fromperipheralblood	blood
35	chr6:101328200-101329600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:101328200-101329600	Active TSS	Fetal Muscle Leg	muscle
37	chr6:101328200-101329600	Active TSS	Placenta	Placenta
38	chr6:101328200-101329600	Active TSS	HUVEC	blood vessel
39	chr6:101328200-101329800	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr6:101328200-101329800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:101328200-101329800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:101328200-101329800	Active TSS	Fetal Stomach	stomach
43	chr6:101328200-101329800	Active TSS	HSMMtube	muscle
44	chr6:101328200-101329800	Active TSS	NH-A	brain
45	chr6:101328200-101329800	Active TSS	NHEK	skin
46	chr6:101328200-101330000	Active TSS	Brain Hippocampus Middle	brain
47	chr6:101328200-101330000	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr6:101328200-101330000	Active TSS	Fetal Lung	lung
49	chr6:101328200-101330000	Active TSS	Ovary	ovary
50	chr6:101328200-101330000	Active TSS	Psoas Muscle	Psoas

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