Variant report

Variant	rs150009268
Chromosome Location	chr3:156871281-156871282
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:156871220-156871838	GM12891	blood:	n/a	n/a
2	POLR2A	chr3:156871035-156871940	GM12892	blood:	n/a	n/a
3	POLR2A	chr3:156871249-156871401	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr3:156871196-156871531	GM12891	blood:	n/a	n/a
5	POLR2A	chr3:156868992-156873002	GM12891	blood:	n/a	n/a
6	POLR2A	chr3:156862893-156872946	A549	lung:	n/a	n/a
7	POLR2A	chr3:156870653-156871560	K562	blood:	n/a	n/a
8	POLR2A	chr3:156871183-156871934	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr3:156868946-156871954	GM12878	blood:	n/a	n/a
10	POLR2A	chr3:156868865-156871888	K562	blood:	n/a	n/a
11	POLR2A	chr3:156871039-156871805	MCF-7	breast:	n/a	n/a
12	POLR2A	chr3:156861007-156879269	K562	blood:	n/a	n/a
13	POLR2A	chr3:156863231-156878853	HepG2	liver:	n/a	n/a
14	POLR2A	chr3:156868856-156872754	GM12878	blood:	n/a	n/a
15	POLR2A	chr3:156871155-156871499	GM12891	blood:	n/a	n/a
16	POLR2A	chr3:156870698-156871293	GM12892	blood:	n/a	n/a
17	POLR2A	chr3:156868728-156873222	GM12878	blood:	n/a	n/a
18	POLR2A	chr3:156868497-156871316	K562	blood:	n/a	n/a
19	POLR2A	chr3:156870885-156871305	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr3:156868831-156872105	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr3:156871203-156871466	GM12892	blood:	n/a	n/a
22	POLR2A	chr3:156868403-156871934	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr3:156870279-156871950	HepG2	liver:	n/a	n/a
24	WRNIP1	chr3:156871258-156871458	GM12878	blood:	n/a	n/a
25	CHD1	chr3:156868741-156879284	IMR90	lung:	n/a	n/a
26	POLR2A	chr3:156871150-156871548	GM12892	blood:	n/a	n/a
27	POLR2A	chr3:156863168-156879174	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr3:156867869-156872315	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr3:156871200-156871471	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr3:156871214-156871475	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:23885182..23885919-chr3:156870766..156871477,2	Hela-S3	cervix:
2	chr1:21113620..21114457-chr3:156870821..156871744,2	Hela-S3	cervix:
3	chr3:156543622..156545874-chr3:156870977..156873628,2	MCF-7	breast:
4	chr3:156267016..156271448-chr3:156870182..156873447,4	K562	blood:
5	chr3:156267109..156271448-chr3:156870440..156873447,4	K562	blood:

No data

Variant related genes	Relation type
CCNL1	TF binding region
ENSG00000201778	TF binding region
ENSG00000117318	Chromatin interaction
ENSG00000197980	Chromatin interaction
ENSG00000114850	Chromatin interaction
ENSG00000127483	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	esv3349885	chr3:156685409-156878910	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
2	nsv829766	chr3:156811536-157020551	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv520331	chr3:156858300-156915650	Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
4	nsv819788	chr3:156869993-156871291	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 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	chr3:156848600-156876600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:156852600-156873400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr3:156853400-156872000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr3:156855000-156872000	Weak transcription	Right Atrium	heart
5	chr3:156855400-156877000	Weak transcription	Gastric	stomach
6	chr3:156856000-156874600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:156858000-156872000	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr3:156858400-156876400	Strong transcription	Fetal Muscle Trunk	muscle
9	chr3:156858600-156872200	Strong transcription	Primary B cells from cord blood	blood
10	chr3:156858600-156872400	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:156859000-156871800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:156859400-156872200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:156859400-156872400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr3:156859400-156876200	Strong transcription	Placenta	Placenta
15	chr3:156859800-156871600	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr3:156859800-156871800	Strong transcription	Fetal Muscle Leg	muscle
17	chr3:156860000-156872000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:156860000-156872200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:156860000-156872200	Strong transcription	A549	lung
20	chr3:156860000-156872400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:156860000-156872400	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr3:156860000-156872800	Strong transcription	HSMM	muscle
23	chr3:156860000-156874000	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:156860200-156871400	Strong transcription	Colon Smooth Muscle	Colon
25	chr3:156860200-156872400	Strong transcription	Fetal Brain Female	brain
26	chr3:156860800-156871800	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:156860800-156872200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr3:156860800-156872400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:156860800-156872400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:156860800-156872600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:156861000-156871400	Strong transcription	Fetal Lung	lung
32	chr3:156861000-156871600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:156861000-156872000	Strong transcription	HUVEC	blood vessel
34	chr3:156861200-156871600	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr3:156861200-156871600	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr3:156861200-156872000	Strong transcription	NHDF-Ad	bronchial
37	chr3:156861200-156873000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr3:156861400-156872000	Strong transcription	Osteobl	bone
39	chr3:156861600-156872000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:156861600-156872200	Strong transcription	Primary hematopoietic stem cells	blood
41	chr3:156861600-156872400	Strong transcription	Fetal Kidney	kidney
42	chr3:156861600-156872400	Strong transcription	Hela-S3	cervix
43	chr3:156861600-156872600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr3:156861600-156873800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr3:156861800-156871400	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr3:156861800-156871800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:156861800-156872400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:156861800-156875600	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr3:156862000-156872200	Strong transcription	HMEC	breast
50	chr3:156862200-156872400	Strong transcription	K562	blood

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