Variant report

Variant	rs185193905
Chromosome Location	chr1:92765503-92765504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:92763434-92766187	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:92763945-92765535	GM12891	blood:	n/a	n/a
3	POLR2A	chr1:92765250-92765894	HepG2	liver:	n/a	n/a
4	MXI1	chr1:92763179-92765794	SK-N-SH	brain:	n/a	n/a
5	WRNIP1	chr1:92765433-92765606	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:92763961-92765568	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr1:92764054-92765573	IMR90	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:92494741..92496705-chr1:92764193..92766152,2	MCF-7	breast:
2	chr1:92762794..92765730-chr1:93295925..93298205,3	K562	blood:
3	chr1:92751701..92754444-chr1:92763776..92766491,2	MCF-7	breast:
4	chr1:92764074..92765656-chr1:93296705..93299037,2	K562	blood:
5	chr1:92764662..92766279-chr1:92768201..92769903,2	MCF-7	breast:

No data

Variant related genes	Relation type
GLMN	TF binding region
ENSG00000174842	Chromatin interaction
ENSG00000122406	Chromatin interaction
ENSG00000172031	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv830592	chr1:92669282-92805629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv870667	chr1:92697188-92813741	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv871352	chr1:92761127-92807238	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv870854	chr1:92765102-92807238	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv871387	chr1:92765102-92813741	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92762800-92767200	Active TSS	GM12878-XiMat	blood
2	chr1:92763200-92765800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:92763200-92765800	Active TSS	A549	lung
4	chr1:92763200-92766200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:92763200-92766800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr1:92763400-92765800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr1:92763400-92765800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:92763400-92765800	Active TSS	HepG2	liver
9	chr1:92763400-92766000	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr1:92763600-92765800	Active TSS	Fetal Intestine Large	intestine
11	chr1:92763800-92765600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr1:92763800-92765600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:92763800-92765600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:92763800-92765600	Active TSS	Psoas Muscle	Psoas
15	chr1:92763800-92765600	Active TSS	Right Atrium	heart
16	chr1:92763800-92765600	Active TSS	HSMM	muscle
17	chr1:92763800-92765600	Active TSS	HSMMtube	muscle
18	chr1:92763800-92765800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr1:92763800-92765800	Active TSS	Ovary	ovary
20	chr1:92763800-92766000	Active TSS	Fetal Brain Male	brain
21	chr1:92763800-92766000	Active TSS	Fetal Intestine Small	intestine
22	chr1:92764000-92765600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:92764000-92765600	Active TSS	Lung	lung
24	chr1:92765000-92765600	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr1:92765000-92765600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr1:92765000-92765600	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr1:92765000-92765600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr1:92765000-92765600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:92765000-92765600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr1:92765000-92765600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr1:92765000-92765600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:92765000-92765600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr1:92765000-92765800	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr1:92765000-92765800	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr1:92765000-92766200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr1:92765000-92766200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:92765000-92766600	Flanking Active TSS	Dnd41	blood
38	chr1:92765200-92765600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr1:92765200-92765600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:92765200-92765600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr1:92765200-92765600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:92765200-92765600	Flanking Active TSS	Thymus	Thymus
43	chr1:92765200-92765600	Flanking Active TSS	HUVEC	blood vessel
44	chr1:92765200-92765800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr1:92765200-92765800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:92765200-92765800	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr1:92765200-92765800	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr1:92765200-92765800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:92765200-92765800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:92765200-92765800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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