Variant report

Variant	rs573502787
Chromosome Location	chr6:166794942-166794943
allele	A/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	RUNX3	chr6:166794810-166795151	GM12878	blood:	n/a	n/a
2	NFIC	chr6:166794941-166795767	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:166794615-166795488	MCF10A-Er-Src	breast:	n/a	n/a
4	ZNF384	chr6:166794539-166795778	K562	blood:	n/a	n/a
5	JUND	chr6:166794646-166795669	K562	blood:	n/a	n/a
6	EP300	chr6:166794857-166795612	K562	blood:	n/a	chr6:166795246-166795260
7	MAZ	chr6:166794830-166795777	GM12878	blood:	n/a	n/a
8	TBL1XR1	chr6:166794885-166795602	GM12878	blood:	n/a	n/a
9	MYBL2	chr6:166794818-166795750	HepG2	liver:	n/a	n/a
10	CTCF	chr6:166794896-166795909	K562	blood:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
11	TBP	chr6:166794853-166795496	GM12878	blood:	n/a	n/a
12	RUNX3	chr6:166794745-166795699	GM12878	blood:	n/a	n/a
13	PML	chr6:166794876-166795772	GM12878	blood:	n/a	n/a
14	MXI1	chr6:166794850-166797629	SK-N-SH	brain:	n/a	chr6:166796910-166796919 chr6:166796912-166796921
15	RAD21	chr6:166794560-166795848	SK-N-SH	brain:	n/a	chr6:166795473-166795487
16	CHD1	chr6:166794902-166795761	IMR90	lung:	n/a	n/a
17	TBL1XR1	chr6:166794518-166795587	K562	blood:	n/a	n/a
18	RCOR1	chr6:166794878-166795804	GM12878	blood:	n/a	n/a
19	CEBPB	chr6:166794880-166795644	GM12878	blood:	n/a	n/a

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	chr6:166751804..166757558-chr6:166793969..166799153,5	K562	blood:
6	chr6:166383156..166385383-chr6:166793262..166795662,2	K562	blood:
7	chr6:166743853..166744743-chr6:166794927..166795865,3	K562	blood:

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

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	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

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166774800-166795000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:166777400-166795400	Weak transcription	Gastric	stomach
3	chr6:166778200-166795000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:166778400-166795000	Weak transcription	Colonic Mucosa	Colon
5	chr6:166780600-166795400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:166782600-166795000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:166791000-166795200	Weak transcription	Left Ventricle	heart
8	chr6:166793000-166795400	Weak transcription	Lung	lung
9	chr6:166793600-166795000	Weak transcription	Aorta	Aorta
10	chr6:166793600-166795000	Weak transcription	Ovary	ovary
11	chr6:166793800-166795000	Weak transcription	HUVEC	blood vessel
12	chr6:166794200-166795200	Flanking Active TSS	Liver	Liver
13	chr6:166794400-166795000	Flanking Active TSS	Dnd41	blood
14	chr6:166794400-166795200	Enhancers	Fetal Brain Male	brain
15	chr6:166794400-166795400	Weak transcription	Pancreas	Pancrea
16	chr6:166794400-166795600	Active TSS	HepG2	liver
17	chr6:166794400-166796400	Active TSS	Right Atrium	heart
18	chr6:166794400-166797600	Active TSS	GM12878-XiMat	blood
19	chr6:166794400-166797800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr6:166794400-166798000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:166794600-166795000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:166794600-166795000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:166794600-166795000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr6:166794600-166795000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:166794600-166795000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr6:166794600-166795000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr6:166794600-166795000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:166794600-166795000	Enhancers	Brain Substantia Nigra	brain
29	chr6:166794600-166795000	Enhancers	Colon Smooth Muscle	Colon
30	chr6:166794600-166795000	Enhancers	Fetal Lung	lung
31	chr6:166794600-166795000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr6:166794600-166795000	Enhancers	HSMM	muscle
33	chr6:166794600-166795200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:166794600-166795200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:166794600-166795200	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr6:166794600-166795200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr6:166794600-166795200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr6:166794600-166795200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:166794600-166795200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr6:166794600-166795200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:166794600-166795200	Enhancers	Brain Cingulate Gyrus	brain
42	chr6:166794600-166795200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr6:166794600-166795400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr6:166794600-166795400	Active TSS	Thymus	Thymus
45	chr6:166794600-166795600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:166794600-166795600	Active TSS	Brain Germinal Matrix	brain
47	chr6:166794600-166795600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:166794600-166796000	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr6:166794600-166796000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:166794600-166796000	Flanking Active TSS	Adipose Nuclei	Adipose

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