Variant report

Variant	rs398074158
Chromosome Location	chr1:93303228-93303229
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:93303001-93304270	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:93301729-93304411	K562	blood:	n/a	n/a
3	POLR2A	chr1:93302966-93303919	GM12892	blood:	n/a	n/a
4	POLR2A	chr1:93301994-93304325	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:93303221-93303789	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:93301951-93304524	HepG2	liver:	n/a	n/a
7	HEY1	chr1:93302944-93303248	K562	blood:	n/a	n/a
8	POLR2A	chr1:93301157-93303829	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:93302592-93304325	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:93301434-93307185	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:93301402-93304643	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr1:93302440-93303763	GM12892	blood:	n/a	n/a
13	POLR2A	chr1:93302966-93303319	MCF-7	breast:	n/a	n/a
14	POLR2A	chr1:93303180-93303916	K562	blood:	n/a	n/a
15	POLR2A	chr1:93303166-93307156	K562	blood:	n/a	n/a
16	POLR2A	chr1:93301952-93304401	GM12891	blood:	n/a	n/a
17	POLR2A	chr1:93301216-93310285	K562	blood:	n/a	n/a
18	POLR2A	chr1:93301817-93304585	HepG2	liver:	n/a	n/a
19	POLR2A	chr1:93302382-93303875	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93302921..93305469-chr1:93643662..93645581,2	K562	blood:
2	chr1:93214862..93218519-chr1:93302722..93305780,4	K562	blood:

No data

Variant related genes	Relation type
SNORA66	TF binding region
ENSG00000251795	TF binding region
ENSG00000234202	Chromatin interaction
ENSG00000122483	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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv530047	chr1:93273425-93308213	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv508393	chr1:93290513-93344924	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv946078	chr1:93302864-93303580	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93299200-93303800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:93299200-93305400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
3	chr1:93299200-93306200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:93299200-93310400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr1:93299400-93307200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:93299400-93309200	Strong transcription	Placenta Amnion	Placenta Amnion
7	chr1:93299600-93303400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:93299600-93304400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr1:93299600-93306000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:93299600-93306600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr1:93299600-93309000	Weak transcription	Esophagus	oesophagus
12	chr1:93299600-93309800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:93299600-93310000	Strong transcription	Placenta	Placenta
14	chr1:93299600-93310400	Strong transcription	Fetal Thymus	thymus
15	chr1:93299800-93303600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:93299800-93304200	Weak transcription	Gastric	stomach
17	chr1:93299800-93304400	Genic enhancers	NHDF-Ad	bronchial
18	chr1:93299800-93310600	Strong transcription	Fetal Intestine Large	intestine
19	chr1:93299800-93311600	Strong transcription	Fetal Muscle Leg	muscle
20	chr1:93300000-93303800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:93300000-93305000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:93300000-93305800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr1:93300000-93306000	Genic enhancers	Primary T cells from cord blood	blood
24	chr1:93300000-93306200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:93300000-93309800	Strong transcription	Thymus	Thymus
26	chr1:93300000-93310000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:93300000-93310000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr1:93300000-93310200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:93300200-93303600	Weak transcription	Brain Angular Gyrus	brain
30	chr1:93300200-93305400	Genic enhancers	HepG2	liver
31	chr1:93300200-93306000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr1:93300200-93306000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
33	chr1:93300200-93306600	Strong transcription	Fetal Kidney	kidney
34	chr1:93300200-93308000	Strong transcription	Colonic Mucosa	Colon
35	chr1:93300200-93309200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:93300200-93310000	Strong transcription	HSMMtube	muscle
37	chr1:93300200-93310200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr1:93300200-93310400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:93300400-93305000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:93300400-93305000	Strong transcription	Fetal Lung	lung
41	chr1:93300400-93305800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:93300400-93306600	Strong transcription	Lung	lung
43	chr1:93300400-93310000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr1:93300400-93316000	Strong transcription	Primary B cells from cord blood	blood
45	chr1:93300600-93304200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:93300600-93304400	Genic enhancers	Osteobl	bone
47	chr1:93300600-93305200	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr1:93300600-93308800	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr1:93300600-93309200	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:93300600-93310000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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