Variant report

Variant	rs73778656
Chromosome Location	chr6:143998862-143998863
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	MAX	chr6:143998831-143999854	HCT-116	colon:	n/a	n/a
2	TEAD4	chr6:143998840-144000083	HepG2	liver:	n/a	n/a
3	MAX	chr6:143998849-143999904	HepG2	liver:	n/a	n/a
4	ZBTB7A	chr6:143998790-143999692	K562	blood:	n/a	n/a
5	MYC	chr6:143998730-143999984	K562	blood:	n/a	n/a
6	PBX3	chr6:143998847-144000029	SK-N-SH	brain:	n/a	n/a
7	NR2F2	chr6:143998778-143999576	MCF-7	breast:	n/a	chr6:143999158-143999173
8	POLR2A	chr6:143998783-143999942	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr6:143998762-143999573	H1-hESC	embryonic stem cell:	n/a	chr6:143998850-143998859
10	TCF12	chr6:143998778-143999815	A549	lung:	n/a	n/a
11	TEAD4	chr6:143998847-143999972	ECC-1	luminal epithelium:	n/a	n/a
12	EP300	chr6:143998683-143999906	ECC-1	luminal epithelium:	n/a	chr6:143999674-143999688 chr6:143998850-143998859
13	TCF12	chr6:143998752-143999737	ECC-1	luminal epithelium:	n/a	n/a
14	ZBTB7A	chr6:143998841-143999404	HepG2	liver:	n/a	n/a
15	CEBPD	chr6:143998771-143999307	K562	blood:	n/a	n/a
16	CHD2	chr6:143998836-143999549	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPD	chr6:143998861-143999334	HepG2	liver:	n/a	n/a
18	MAZ	chr6:143998765-143999837	K562	blood:	n/a	n/a
19	SIN3AK20	chr6:143998828-143999927	MCF-7	breast:	n/a	n/a
20	ZBTB7A	chr6:143998669-143999373	ECC-1	luminal epithelium:	n/a	n/a
21	MXI1	chr6:143998807-144000753	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr6:143998801-144000573	HUVEC	blood vessel:	n/a	n/a
23	MAZ	chr6:143998716-143999409	HepG2	liver:	n/a	n/a
24	ZBTB7A	chr6:143998814-143999521	K562	blood:	n/a	n/a
25	NR2F2	chr6:143998745-143999802	HepG2	liver:	n/a	chr6:143999158-143999173
26	ZBTB7A	chr6:143998751-143999297	ECC-1	luminal epithelium:	n/a	n/a
27	HDAC2	chr6:143998757-143999582	HepG2	liver:	n/a	chr6:143998848-143998862 chr6:143998786-143998800
28	ZMIZ1	chr6:143998799-144000018	K562	blood:	n/a	n/a
29	TBL1XR1	chr6:143998674-143998880	K562	blood:	n/a	n/a
30	TEAD4	chr6:143998847-143999736	ECC-1	luminal epithelium:	n/a	n/a
31	NR2F2	chr6:143998833-143999387	MCF-7	breast:	n/a	chr6:143999158-143999173
32	YY1	chr6:143998851-143999638	HepG2	liver:	n/a	chr6:143998959-143998973
33	NR2F2	chr6:143998843-143999928	K562	blood:	n/a	chr6:143999158-143999173
34	MAZ	chr6:143998854-143998877	GM12878	blood:	n/a	n/a
35	MAX	chr6:143998862-143999876	A549	lung:	n/a	n/a
36	RCOR1	chr6:143998784-143999814	K562	blood:	n/a	n/a
37	ZBTB7A	chr6:143998819-143999258	HepG2	liver:	n/a	n/a
38	ZNF143	chr6:143998788-143999362	K562	blood:	n/a	n/a
39	NR2F2	chr6:143998860-143999370	HepG2	liver:	n/a	chr6:143999158-143999173

No.	Distal block	Cell Line	Cell type
1	chr6:143998295..144000747-chr6:144385501..144387723,2	K562	blood:
2	chr13:31735734..31736331-chr6:143998704..143999282,2	HCT-116	colon:
3	chr6:143997590..144001098-chr6:144164062..144165676,3	K562	blood:

Variant related genes	Relation type
PHACTR2	TF binding region
ENSG00000135521	Chromatin interaction
ENSG00000120694	Chromatin interaction
ENSG00000118495	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56088548	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58309086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6901574	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6909556	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778644	0.85[AMR][1000 genomes]
rs73778646	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778651	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778653	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7750786	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7753075	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7755210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1032369	chr6:143925374-144007513	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv604805	chr6:143930404-144005949	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143994200-143999000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:143994600-143999000	Weak transcription	Lung	lung
3	chr6:143994800-143999000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:143996200-143999000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:143996200-143999000	Weak transcription	Esophagus	oesophagus
6	chr6:143996200-143999000	Weak transcription	Pancreas	Pancrea
7	chr6:143996200-143999000	Weak transcription	Small Intestine	intestine
8	chr6:143996600-143999000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:143996600-143999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:143996800-143999000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:143996800-143999000	Weak transcription	Gastric	stomach
12	chr6:143997200-143999000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:143997400-143999000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:143997600-143999200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:143997600-143999200	Weak transcription	Stomach Mucosa	stomach
16	chr6:143997600-144000400	Active TSS	A549	lung
17	chr6:143997600-144001800	Active TSS	Aorta	Aorta
18	chr6:143997800-143999000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr6:143998200-143999000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:143998200-144002800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:143998400-144001600	Active TSS	Fetal Muscle Trunk	muscle
22	chr6:143998400-144001800	Active TSS	Fetal Muscle Leg	muscle
23	chr6:143998600-143999000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:143998600-143999000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr6:143998600-143999000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr6:143998600-143999000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr6:143998600-143999000	Active TSS	Right Atrium	heart
28	chr6:143998600-143999000	Flanking Active TSS	HUVEC	blood vessel
29	chr6:143998600-143999200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr6:143998600-143999600	Active TSS	Primary T cells from cord blood	blood
31	chr6:143998600-143999600	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr6:143998600-143999800	Active TSS	Primary hematopoietic stem cells	blood
33	chr6:143998600-144000000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:143998600-144000200	Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr6:143998600-144000200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr6:143998600-144000200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr6:143998600-144000200	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr6:143998600-144000400	Active TSS	Colon Smooth Muscle	Colon
39	chr6:143998600-144000400	Active TSS	NH-A	brain
40	chr6:143998600-144000600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:143998600-144000600	Active TSS	Rectal Smooth Muscle	rectum
42	chr6:143998600-144000800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:143998600-144001000	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr6:143998600-144001200	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr6:143998600-144001400	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr6:143998600-144001400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:143998600-144001400	Active TSS	Fetal Kidney	kidney
48	chr6:143998600-144001600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:143998600-144001600	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr6:143998600-144001800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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