Variant report

Variant	rs6770674
Chromosome Location	chr3:46452873-46452874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:46450527-46452937	K562	blood:	n/a	n/a
2	CTCF	chr3:46452780-46452930	A549	lung:	n/a	n/a
3	CTCF	chr3:46452860-46453010	HCT-116	colon:	n/a	n/a
4	CTCF	chr3:46452860-46453010	HEEpiC	esophagus:	n/a	n/a
5	TEAD4	chr3:46452802-46453173	K562	blood:	n/a	n/a
6	CTCF	chr3:46452860-46453010	HPAF	blood vessel:	n/a	n/a
7	CTCF	chr3:46452860-46453010	HAc	cerebellar:	n/a	n/a
8	CTCF	chr3:46452860-46453010	Caco-2	colon:	n/a	n/a
9	CTCF	chr3:46452800-46452950	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr3:46452800-46452950	HFF-Myc	foreskin:	n/a	n/a
11	CTCF	chr3:46452820-46452970	AG09309	skin:	n/a	n/a
12	CTCF	chr3:46452860-46453010	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr3:46452840-46452990	HVMF	connective:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:46447273..46450533-chr3:46451811..46454983,6	K562	blood:
2	chr3:46447015..46450131-chr3:46450692..46453311,4	K562	blood:
3	chr3:46451682..46454304-chr3:46456370..46459250,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223552	TF binding region
ENSG00000223552	Chromatin interaction
ENSG00000121797	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1140865	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11574428	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11574429	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11574434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11574435	0.84[EUR][1000 genomes]
rs11575821	0.96[EUR][1000 genomes]
rs2157061	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2157062	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2856758	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3092960	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3136535	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34291293	0.95[EUR][1000 genomes]
rs34445878	0.96[EUR][1000 genomes]
rs34971514	0.95[EUR][1000 genomes]
rs35388950	0.95[EUR][1000 genomes]
rs41490645	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4452362	0.83[EUR][1000 genomes]
rs4453882	0.81[EUR][1000 genomes]
rs57093591	0.87[EUR][1000 genomes]
rs6782522	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6787972	0.98[EUR][1000 genomes]
rs6791789	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6798291	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808835	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs762790	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7652037	0.96[EUR][1000 genomes]
rs916094	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46438800-46459800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:46448600-46460000	Weak transcription	Gastric	stomach
3	chr3:46449400-46453000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:46449600-46453800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr3:46449600-46454000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:46449600-46457600	Weak transcription	Primary B cells from cord blood	blood
7	chr3:46449800-46453800	Weak transcription	Small Intestine	intestine
8	chr3:46450000-46457600	Weak transcription	Stomach Mucosa	stomach
9	chr3:46450000-46457800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:46450200-46454200	Weak transcription	Fetal Lung	lung
11	chr3:46450200-46456800	Weak transcription	Fetal Intestine Large	intestine
12	chr3:46450200-46457400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr3:46450200-46457600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr3:46450400-46454200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr3:46450600-46454000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:46450600-46454000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:46450600-46457000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr3:46450800-46453600	Weak transcription	HUVEC	blood vessel
19	chr3:46450800-46454000	Weak transcription	Psoas Muscle	Psoas
20	chr3:46451000-46457600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr3:46451600-46458400	Enhancers	Fetal Heart	heart
22	chr3:46451800-46453600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:46451800-46453800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:46451800-46453800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:46451800-46454000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr3:46451800-46456800	Weak transcription	Fetal Intestine Small	intestine
27	chr3:46452000-46453800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr3:46452000-46454200	Weak transcription	K562	blood
29	chr3:46452000-46454400	Weak transcription	Dnd41	blood
30	chr3:46452200-46454200	Weak transcription	Primary T cells from cord blood	blood
31	chr3:46452400-46453000	Enhancers	NHLF	lung
32	chr3:46452400-46453600	Weak transcription	Fetal Thymus	thymus
33	chr3:46452400-46454200	Weak transcription	HSMM	muscle
34	chr3:46452600-46453800	Weak transcription	Adipose Nuclei	Adipose
35	chr3:46452600-46453800	Weak transcription	Right Atrium	heart
36	chr3:46452600-46454200	Weak transcription	Thymus	Thymus
37	chr3:46452600-46455000	Weak transcription	Placenta	Placenta
38	chr3:46452600-46456800	Weak transcription	Spleen	Spleen
39	chr3:46452800-46454000	Weak transcription	Right Ventricle	heart
40	chr3:46452800-46456400	Weak transcription	Lung	lung
41	chr3:46452800-46457400	Weak transcription	Left Ventricle	heart

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