Variant report

Variant	rs146654137
Chromosome Location	chr1:161185224-161185225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:161184974-161185325	A549	lung:	n/a	n/a
2	POLR2A	chr1:161184662-161185370	HL-60	blood:	n/a	n/a
3	POLR2A	chr1:161184830-161185321	H1-hESC	embryonic stem cell:	n/a	n/a
4	SPI1	chr1:161184819-161185298	HL-60	blood:	n/a	chr1:161184988-161185001
5	POLR2A	chr1:161184831-161185582	K562	blood:	n/a	n/a
6	POLR2A	chr1:161185112-161185264	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:161184803-161185302	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:161184677-161185346	GM12892	blood:	n/a	n/a
9	POLR2A	chr1:161185127-161185344	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:161184705-161185427	K562	blood:	n/a	n/a
11	POLR2A	chr1:161184875-161185390	GM12891	blood:	n/a	n/a
12	POLR2A	chr1:161184961-161185291	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:161185206-161185249	HepG2	liver:	n/a	n/a
14	POLR2A	chr1:161184762-161185373	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr1:161184826-161185413	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:161184887-161185351	GM12892	blood:	n/a	n/a
17	POLR2A	chr1:161184809-161185395	GM12892	blood:	n/a	n/a
18	POLR2A	chr1:161184893-161185343	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:161184909-161185266	HepG2	liver:	n/a	n/a
20	POLR2A	chr1:161184837-161185233	HepG2	liver:	n/a	n/a
21	POLR2A	chr1:161184736-161185425	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr1:161184898-161185320	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr1:161185044-161185353	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr1:161185141-161185382	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr1:161184791-161185429	Hela-S3	cervix:	n/a	n/a
26	MAX	chr1:161184840-161185247	NB4	blood:	n/a	n/a
27	POLR2A	chr1:161184792-161185382	K562	blood:	n/a	n/a
28	POLR2A	chr1:161184792-161185361	GM12891	blood:	n/a	n/a
29	POLR2A	chr1:161185041-161185360	HCT-116	colon:	n/a	n/a
30	POLR2A	chr1:161184802-161185420	HCT-116	colon:	n/a	n/a
31	POLR2A	chr1:161184943-161185314	GM12878	blood:	n/a	n/a
32	POLR2A	chr1:161184959-161185409	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr1:161185011-161185324	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr1:161184823-161185325	GM12891	blood:	n/a	n/a
35	POLR2A	chr1:161184801-161185425	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr1:161184953-161185343	GM12878	blood:	n/a	n/a
37	POLR2A	chr1:161184661-161185458	HL-60	blood:	n/a	n/a
38	POLR2A	chr1:161184665-161185322	PFSK-1	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:161178470..161182189-chr1:161183792..161185908,3	K562	blood:
2	chr1:161172161..161173838-chr1:161184406..161186813,2	MCF-7	breast:
3	chr1:161184335..161187137-chr1:161197763..161199815,2	MCF-7	breast:
4	chr1:161179856..161181957-chr1:161183468..161185300,2	MCF-7	breast:
5	chr1:161183575..161186410-chr1:161283060..161284793,2	K562	blood:
6	chr1:161174340..161177261-chr1:161184177..161187109,2	K562	blood:
7	chr1:161175566..161178282-chr1:161184177..161186435,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268387	TF binding region
ENSG00000143252	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000158882	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv482136	chr1:161185087-161189038	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161172800-161186800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:161172800-161193600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:161173400-161185400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:161173800-161185400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:161173800-161185400	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:161174200-161185400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:161175000-161185400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:161175000-161185800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:161175400-161185800	Strong transcription	Fetal Stomach	stomach
10	chr1:161176000-161185400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:161176400-161185800	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr1:161177200-161185600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:161177400-161186000	Weak transcription	Right Atrium	heart
14	chr1:161178200-161185400	Strong transcription	Gastric	stomach
15	chr1:161178200-161185400	Strong transcription	NH-A	brain
16	chr1:161178600-161185600	Strong transcription	NHLF	lung
17	chr1:161178800-161185400	Strong transcription	Fetal Brain Female	brain
18	chr1:161178800-161185400	Strong transcription	Pancreas	Pancrea
19	chr1:161178800-161185600	Strong transcription	HMEC	breast
20	chr1:161178800-161186000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:161179600-161185400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:161179800-161185400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:161180000-161185400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:161180000-161185400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:161180000-161185800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:161180200-161185400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:161180200-161185400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:161180200-161185600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:161180600-161186200	Weak transcription	Fetal Heart	heart
30	chr1:161181200-161186400	Weak transcription	Stomach Mucosa	stomach
31	chr1:161182400-161193800	Weak transcription	Small Intestine	intestine
32	chr1:161183600-161185400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:161184000-161187000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr1:161184000-161187200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:161184200-161185400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
36	chr1:161184200-161185800	Weak transcription	K562	blood
37	chr1:161184200-161186200	Weak transcription	NHDF-Ad	bronchial
38	chr1:161184200-161186400	Weak transcription	Fetal Lung	lung
39	chr1:161184200-161186400	Weak transcription	HSMMtube	muscle
40	chr1:161184200-161186600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:161184200-161190200	Weak transcription	Psoas Muscle	Psoas
42	chr1:161184400-161185400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:161184400-161186200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:161184400-161186200	Weak transcription	HSMM	muscle
45	chr1:161184400-161186400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:161184400-161186600	Weak transcription	Fetal Kidney	kidney
47	chr1:161184400-161186600	Weak transcription	Ovary	ovary
48	chr1:161184400-161186800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr1:161184400-161187000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr1:161184400-161188400	Weak transcription	Fetal Brain Male	brain

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