Variant report

Variant	rs375617390
Chromosome Location	chr1:174764870-174764871
allele	-/TTG
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	RPC155	chr1:174764378-174765191	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:174763378..174766267-chr1:174992763..174994276,2	MCF-7	breast:
2	chr1:174760005..174762413-chr1:174764252..174765776,2	K562	blood:
3	chr1:174761076..174764017-chr1:174764212..174765845,2	MCF-7	breast:

Variant related genes	Relation type
RABGAP1L	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv548198	chr1:174731596-174800872	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1824383	chr1:174764839-174801748	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1844306	chr1:174764839-174801748	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1819206	chr1:174764839-174802731	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1844208	chr1:174764839-174818547	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1847553	chr1:174764839-174818547	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174747000-174768400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:174758200-174768400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:174758800-174768000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:174758800-174768200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:174759400-174768000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:174759400-174768400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:174759400-174768400	Weak transcription	Osteobl	bone
8	chr1:174760000-174768400	Weak transcription	HSMMtube	muscle
9	chr1:174761000-174768200	Weak transcription	GM12878-XiMat	blood
10	chr1:174761200-174768000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:174761400-174766600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:174761400-174768200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:174761400-174768200	Weak transcription	HSMM	muscle
14	chr1:174761400-174768400	Weak transcription	Right Atrium	heart
15	chr1:174761800-174768200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:174762000-174766400	Weak transcription	K562	blood
17	chr1:174762000-174768400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:174762800-174768400	Weak transcription	Right Ventricle	heart
19	chr1:174763600-174765200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:174764000-174765000	Enhancers	Fetal Intestine Large	intestine
21	chr1:174764000-174765200	Enhancers	Fetal Intestine Small	intestine
22	chr1:174764000-174765400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:174764000-174765400	Enhancers	NHEK	skin
24	chr1:174764200-174765000	Enhancers	Duodenum Mucosa	Duodenum
25	chr1:174764200-174765200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:174764200-174765200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:174764200-174765200	Enhancers	HMEC	breast
28	chr1:174764600-174765000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:174764600-174765400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:174764800-174766400	Weak transcription	Small Intestine	intestine
31	chr1:174764800-174768200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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