Variant report

Variant	rs544585345
Chromosome Location	chr6:166795308-166795309
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	CTCF	chr6:166795273-166795600	T-47D	breast:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
2	POLR2A	chr6:166795215-166797378	K562	blood:	n/a	n/a
3	MAZ	chr6:166795132-166797512	K562	blood:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
4	ZNF143	chr6:166795251-166795654	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr6:166795170-166797425	K562	blood:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
6	KAP1	chr6:166795251-166795838	HEK293	kidney:	n/a	n/a
7	NFIC	chr6:166794941-166795767	GM12878	blood:	n/a	n/a
8	CHD2	chr6:166795231-166795797	GM12878	blood:	n/a	n/a
9	CTCF	chr6:166795260-166796111	K562	blood:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
10	CTCF	chr6:166795300-166795450	HFF-Myc	foreskin:	n/a	n/a
11	TCF12	chr6:166795169-166795862	ECC-1	luminal epithelium:	n/a	chr6:166795366-166795373 chr6:166795524-166795531
12	JUND	chr6:166795279-166795566	HepG2	liver:	n/a	n/a
13	POLR2A	chr6:166794615-166795488	MCF10A-Er-Src	breast:	n/a	n/a
14	SIN3AK20	chr6:166795056-166797610	HCT-116	colon:	n/a	n/a
15	RAD21	chr6:166795149-166795730	HepG2	liver:	n/a	chr6:166795473-166795487
16	ATF2	chr6:166795205-166795713	GM12878	blood:	n/a	n/a
17	POLR2A	chr6:166795164-166795652	GM12892	blood:	n/a	n/a
18	RAD21	chr6:166795193-166795640	GM12878	blood:	n/a	chr6:166795473-166795487
19	RELA	chr6:166795011-166795762	GM19099	blood:	n/a	n/a
20	TBP	chr6:166795212-166795896	K562	blood:	n/a	n/a
21	POLR2A	chr6:166795157-166798107	HepG2	liver:	n/a	n/a
22	TCF12	chr6:166795300-166795651	GM12878	blood:	n/a	chr6:166795366-166795373 chr6:166795524-166795531
23	POLR2A	chr6:166795236-166795654	K562	blood:	n/a	n/a
24	MTA3	chr6:166795136-166795769	GM12878	blood:	n/a	n/a
25	REST	chr6:166795180-166795558	HepG2	liver:	n/a	n/a
26	SIN3A	chr6:166795266-166797408	GM12878	blood:	n/a	chr6:166796646-166796659 chr6:166796181-166796194 chr6:166796912-166796921
27	ZNF384	chr6:166794539-166795778	K562	blood:	n/a	n/a
28	CTCF	chr6:166795074-166795766	HCT-116	colon:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
29	CTCF	chr6:166795290-166795611	T-47D	breast:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
30	POLR2A	chr6:166795156-166797691	HepG2	liver:	n/a	n/a
31	FOXM1	chr6:166795173-166795691	GM12878	blood:	n/a	n/a
32	SIN3AK20	chr6:166795244-166795610	K562	blood:	n/a	n/a
33	POLR2A	chr6:166795182-166796062	GM12892	blood:	n/a	n/a
34	GABPA	chr6:166795277-166795638	H1-hESC	embryonic stem cell:	n/a	n/a
35	TAF1	chr6:166795288-166795582	H1-hESC	embryonic stem cell:	n/a	n/a
36	RAD21	chr6:166795297-166795582	K562	blood:	n/a	chr6:166795473-166795487
37	MAX	chr6:166795204-166795744	A549	lung:	n/a	n/a
38	BHLHE40	chr6:166795239-166795687	GM12878	blood:	n/a	n/a
39	BCLAF1	chr6:166795172-166795686	GM12878	blood:	n/a	chr6:166795474-166795487
40	HEY1	chr6:166795235-166795771	K562	blood:	n/a	n/a
41	MAFK	chr6:166795268-166795572	HepG2	liver:	n/a	n/a
42	SMC3	chr6:166794980-166795593	HepG2	liver:	n/a	chr6:166795473-166795487
43	ELF1	chr6:166795242-166795576	HepG2	liver:	n/a	n/a
44	MBD4	chr6:166795014-166795696	HepG2	liver:	n/a	n/a
45	ELF1	chr6:166795228-166795647	K562	blood:	n/a	n/a
46	PAX5	chr6:166795255-166795609	GM12878	blood:	n/a	n/a
47	JUND	chr6:166794646-166795669	K562	blood:	n/a	n/a
48	MAZ	chr6:166795213-166797490	IMR90	lung:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
49	HDAC2	chr6:166795250-166795774	MCF-7	breast:	n/a	n/a
50	EP300	chr6:166794857-166795612	K562	blood:	n/a	chr6:166795246-166795260

No.	Distal block	Cell Line	Cell type
1	chr6:166753320..166757958-chr6:166794622..166799153,8	K562	blood:
2	chr6:166743072..166748840-chr6:166793771..166798653,8	K562	blood:
3	chr6:166726357..166727438-chr6:166794885..166795636,3	K562	blood:
4	chr6:166750705..166753304-chr6:166793796..166795469,2	K562	blood:
5	chr6:166726860..166727411-chr6:166795185..166795905,2	MCF-7	breast:
6	chr6:166744077..166744772-chr6:166795075..166795860,2	MCF-7	breast:
7	chr6:166751804..166757558-chr6:166793969..166799153,5	K562	blood:
8	chr6:166689127..166689809-chr6:166795241..166795961,2	K562	blood:
9	chr6:166383156..166385383-chr6:166793262..166795662,2	K562	blood:
10	chr6:166743853..166744743-chr6:166794927..166795865,3	K562	blood:

Variant related genes	Relation type
ENSG00000261420	TF binding region
ENSG00000233231	Chromatin interaction
ENSG00000198818	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	esv3376653	chr6:166783590-166798116	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3422353	chr6:166794787-166797335	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3329582	chr6:166795187-166797735	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166777400-166795400	Weak transcription	Gastric	stomach
2	chr6:166780600-166795400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:166793000-166795400	Weak transcription	Lung	lung
4	chr6:166794400-166795400	Weak transcription	Pancreas	Pancrea
5	chr6:166794400-166795600	Active TSS	HepG2	liver
6	chr6:166794400-166796400	Active TSS	Right Atrium	heart
7	chr6:166794400-166797600	Active TSS	GM12878-XiMat	blood
8	chr6:166794400-166797800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:166794400-166798000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:166794600-166795400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr6:166794600-166795400	Active TSS	Thymus	Thymus
12	chr6:166794600-166795600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:166794600-166795600	Active TSS	Brain Germinal Matrix	brain
14	chr6:166794600-166795600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:166794600-166796000	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr6:166794600-166796000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:166794600-166796000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr6:166794600-166797600	Active TSS	Psoas Muscle	Psoas
19	chr6:166794600-166797600	Active TSS	Right Ventricle	heart
20	chr6:166794600-166797800	Active TSS	Brain Angular Gyrus	brain
21	chr6:166794600-166797800	Active TSS	NHEK	skin
22	chr6:166794800-166795400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr6:166794800-166795600	Active TSS	Fetal Thymus	thymus
24	chr6:166794800-166795600	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr6:166794800-166795600	Active TSS	HMEC	breast
26	chr6:166794800-166796000	Active TSS	Fetal Heart	heart
27	chr6:166794800-166796000	Flanking Active TSS	NH-A	brain
28	chr6:166794800-166796200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr6:166794800-166796200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:166794800-166796400	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr6:166794800-166797200	Active TSS	Fetal Stomach	stomach
32	chr6:166794800-166797400	Active TSS	Fetal Muscle Leg	muscle
33	chr6:166794800-166797600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr6:166794800-166797600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:166794800-166797600	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr6:166794800-166797600	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr6:166794800-166797600	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr6:166794800-166797600	Active TSS	Fetal Intestine Large	intestine
39	chr6:166794800-166797600	Active TSS	HSMMtube	muscle
40	chr6:166794800-166797600	Active TSS	K562	blood
41	chr6:166794800-166797600	Active TSS	NHLF	lung
42	chr6:166794800-166797800	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr6:166794800-166797800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:166794800-166797800	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr6:166794800-166797800	Active TSS	Stomach Mucosa	stomach
46	chr6:166794800-166798000	Active TSS	Duodenum Mucosa	Duodenum
47	chr6:166795000-166795400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
48	chr6:166795000-166795400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr6:166795000-166795400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:166795000-166795400	Flanking Active TSS	Brain Anterior Caudate	brain

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