Variant report

Variant	rs367661984
Chromosome Location	chr1:85748950-85748951
allele	-/TTGATAATA
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	CEBPB	chr1:85748919-85749601	HCT-116	colon:	n/a	chr1:85749276-85749287

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85743465..85746291-chr1:85746776..85749038,2	MCF-7	breast:
2	chr1:85741905..85744580-chr1:85747619..85751624,6	K562	blood:

Variant related genes	Relation type
ENSG00000264380	TF binding region
ENSG00000223653	Chromatin interaction
ENSG00000142867	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3450265	chr1:85747914-85749962	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	esv2574928	chr1:85748263-85749909	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
6	esv8174	chr1:85748368-85749220	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
7	esv2065463	chr1:85748418-85749137	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
8	esv1008164	chr1:85748448-85749693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
9	esv3372523	chr1:85748464-85749462	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
10	esv3320352	chr1:85748504-85749056	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
11	esv3507756	chr1:85748516-85749040	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
12	esv3507761	chr1:85748532-85749059	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
13	esv3232	chr1:85748537-85749078	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
14	esv3507758	chr1:85748546-85749004	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
15	esv3507760	chr1:85748548-85748987	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
16	esv3320350	chr1:85748557-85749019	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
17	esv3507757	chr1:85748564-85749002	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
18	esv3320353	chr1:85748564-85749022	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
19	esv3320355	chr1:85748572-85748978	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
20	esv3507755	chr1:85748577-85748997	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
21	esv2304016	chr1:85748583-85749154	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
22	esv3397124	chr1:85748584-85748972	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
23	esv3320354	chr1:85748605-85748958	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
24	esv3507759	chr1:85748621-85748952	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
25	esv3320356	chr1:85748621-85748965	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
26	esv3507762	chr1:85748621-85748965	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
27	esv1010849	chr1:85748622-85748951	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
28	esv1266887	chr1:85748634-85748964	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85742800-85763000	Weak transcription	Ovary	ovary
2	chr1:85743000-85749200	Weak transcription	Fetal Stomach	stomach
3	chr1:85743000-85749200	Weak transcription	Psoas Muscle	Psoas
4	chr1:85743000-85773600	Weak transcription	Right Atrium	heart
5	chr1:85743200-85752000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:85745200-85753600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:85745400-85749000	Weak transcription	A549	lung
8	chr1:85745400-85749200	Weak transcription	Colonic Mucosa	Colon
9	chr1:85745400-85749400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:85745600-85749000	Weak transcription	Stomach Mucosa	stomach
11	chr1:85745600-85749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:85745600-85749200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:85745600-85749400	Weak transcription	Gastric	stomach
14	chr1:85745600-85749400	Weak transcription	Pancreas	Pancrea
15	chr1:85745800-85749000	Weak transcription	HMEC	breast
16	chr1:85745800-85749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:85745800-85749400	Weak transcription	Lung	lung
18	chr1:85745800-85749600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:85746800-85749000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:85746800-85753600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:85747000-85749200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:85747000-85749600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:85747200-85749200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:85747600-85749400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:85747600-85750200	Weak transcription	Primary B cells from cord blood	blood
26	chr1:85747800-85750000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:85748000-85749200	Enhancers	HepG2	liver
28	chr1:85748000-85749600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:85748000-85749800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr1:85748000-85750000	Enhancers	NHEK	skin
31	chr1:85748400-85749600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:85748600-85764000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:85748800-85749600	Weak transcription	Fetal Intestine Small	intestine
34	chr1:85748800-85750800	Enhancers	Esophagus	oesophagus

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