Variant report

Variant	rs4971048
Chromosome Location	chr1:150544200-150544201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:150543194-150546558	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:150538698-150546656	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:150538889-150552727	K562	blood:	n/a	n/a
4	POLR2A	chr1:150538866-150546573	U87	brain:	n/a	n/a
5	POLR2A	chr1:150539774-150546448	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr1:150541963-150546408	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr1:150543224-150546653	K562	blood:	n/a	n/a
8	POLR2A	chr1:150527732-150552686	MCF10A-Er-Src	breast:	n/a	n/a
9	SIN3AK20	chr1:150543601-150546543	K562	blood:	n/a	n/a
10	POLR2A	chr1:150530622-150553130	IMR90	lung:	n/a	n/a
11	POLR2A	chr1:150544093-150544321	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:150540216-150546538	U87	brain:	n/a	n/a
13	POLR2A	chr1:150538654-150552953	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr1:150543506-150544212	SK-N-SH	brain:	n/a	n/a
15	BCLAF1	chr1:150543454-150544272	K562	blood:	n/a	chr1:150543944-150543953
16	POLR2A	chr1:150543314-150546680	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:150539727-150546572	HepG2	liver:	n/a	n/a
18	POLR2A	chr1:150530539-150552850	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr1:150538736-150552926	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:150538866-150553173	U87	brain:	n/a	n/a
21	POLR2A	chr1:150538945-150546560	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr1:150544086-150544324	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:150542302-150546578	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr1:150538877-150553278	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr1:150538822-150553196	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr1:150539636-150544211	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr1:150544074-150545022	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr1:150542706-150546537	K562	blood:	n/a	n/a
29	POLR2A	chr1:150543438-150546395	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr1:150542040-150546487	GM12891	blood:	n/a	n/a
31	POLR2A	chr1:150541942-150546679	GM12891	blood:	n/a	n/a
32	POLR2A	chr1:150543514-150544245	GM12891	blood:	n/a	n/a
33	POLR2A	chr1:150541930-150546677	GM12891	blood:	n/a	n/a
34	POLR2A	chr1:150543208-150546659	GM12891	blood:	n/a	n/a
35	POLR2A	chr1:150538740-150553070	K562	blood:	n/a	n/a
36	POLR2A	chr1:150538874-150549135	GM12878	blood:	n/a	n/a
37	POLR2A	chr1:150543394-150546610	GM19193	blood:	n/a	n/a
38	POLR2A	chr1:150538937-150546714	GM12892	blood:	n/a	n/a
39	POLR2A	chr1:150538892-150546716	GM12892	blood:	n/a	n/a
40	CEBPD	chr1:150543525-150544310	K562	blood:	n/a	n/a
41	POLR2A	chr1:150538916-150552586	K562	blood:	n/a	n/a
42	POLR2A	chr1:150544105-150544309	GM12878	blood:	n/a	n/a
43	POLR2A	chr1:150543565-150544343	MCF-7	breast:	n/a	n/a
44	POLR2A	chr1:150539734-150546272	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr1:150542045-150546562	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:150544144-150546657	GM12892	blood:	n/a	n/a
47	POLR2A	chr1:150543464-150547855	K562	blood:	n/a	n/a
48	POLR2A	chr1:150542014-150553018	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr1:150531141-150552175	A549	lung:	n/a	n/a
50	POLR2A	chr1:150541798-150544263	U87	brain:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150455770..150459652-chr1:150544183..150547234,4	K562	blood:
2	chr1:150543953..150547860-chr1:150600449..150605575,7	K562	blood:
3	chr1:150538995..150557554-chr1:150581886..150604495,126	K562	blood:
4	chr1:150543938..150548482-chr1:150576509..150579510,5	K562	blood:
5	chr1:150543642..150545689-chr1:150586263..150588774,2	MCF-7	breast:
6	chr1:150544010..150546916-chr1:150590925..150592477,2	MCF-7	breast:
7	chr1:150543916..150546115-chr1:150744599..150746718,2	K562	blood:
8	chr1:150542528..150547161-chr1:150576124..150579510,4	K562	blood:
9	chr1:150542533..150544635-chr1:150845972..150847579,2	MCF-7	breast:
10	chr1:150486114..150488258-chr1:150542189..150544516,3	K562	blood:
11	chr1:150455770..150457599-chr1:150544025..150546783,3	K562	blood:
12	chr1:150542198..150544708-chr1:150893350..150895206,2	K562	blood:
13	chr1:150542997..150546031-chr1:150978720..150981188,4	MCF-7	breast:

No data

Variant related genes	Relation type
RN7SL600P	TF binding region
RN7SL473P	TF binding region
ENSG00000143409	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000228126	Chromatin interaction
ENSG00000143420	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16841775	1.00[EUR][1000 genomes]
rs2055974	1.00[EUR][1000 genomes]
rs4970995	1.00[EUR][1000 genomes]
rs6662183	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs945715	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv535155	chr1:150535349-150582395	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
3	nsv535156	chr1:150540117-150575941	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150534400-150547200	Weak transcription	Ovary	ovary
2	chr1:150540600-150544200	Enhancers	NHLF	lung
3	chr1:150540600-150544800	Enhancers	Psoas Muscle	Psoas
4	chr1:150540800-150545600	Enhancers	Right Atrium	heart
5	chr1:150540800-150545600	Enhancers	Right Ventricle	heart
6	chr1:150541400-150544200	Enhancers	Fetal Heart	heart
7	chr1:150541400-150545400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:150541400-150545600	Genic enhancers	Rectal Mucosa Donor 31	rectum
9	chr1:150541400-150545800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:150541400-150547200	Genic enhancers	Fetal Intestine Small	intestine
11	chr1:150541400-150549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:150541600-150544400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:150541600-150545200	Weak transcription	Fetal Kidney	kidney
14	chr1:150541600-150545600	Weak transcription	Brain Angular Gyrus	brain
15	chr1:150541800-150544400	Genic enhancers	Fetal Muscle Trunk	muscle
16	chr1:150541800-150544600	Genic enhancers	Primary T cells fromperipheralblood	blood
17	chr1:150541800-150546800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:150542000-150545400	Genic enhancers	Primary B cells from peripheral blood	blood
19	chr1:150542000-150545600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:150542000-150545600	Strong transcription	Fetal Brain Female	brain
21	chr1:150542000-150547200	Genic enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:150542200-150545200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
23	chr1:150542200-150545600	Genic enhancers	Rectal Mucosa Donor 29	rectum
24	chr1:150542200-150547200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:150542200-150547200	Strong transcription	Brain Germinal Matrix	brain
26	chr1:150542200-150548000	Genic enhancers	Placenta	Placenta
27	chr1:150542400-150544400	Strong transcription	Fetal Intestine Large	intestine
28	chr1:150542400-150544800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:150542400-150545600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:150542400-150546800	Genic enhancers	Fetal Muscle Leg	muscle
31	chr1:150542400-150547000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:150542600-150544200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr1:150542600-150545000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
34	chr1:150542600-150545200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:150542600-150545400	Weak transcription	Brain Substantia Nigra	brain
36	chr1:150542600-150545600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:150542600-150545600	Genic enhancers	Adipose Nuclei	Adipose
38	chr1:150542600-150545600	Genic enhancers	Liver	Liver
39	chr1:150542600-150545600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:150542600-150547200	Genic enhancers	Lung	lung
41	chr1:150542600-150548200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
42	chr1:150542800-150544600	Weak transcription	Brain Anterior Caudate	brain
43	chr1:150542800-150545200	Weak transcription	Hela-S3	cervix
44	chr1:150542800-150545200	Weak transcription	HepG2	liver
45	chr1:150542800-150545200	Weak transcription	K562	blood
46	chr1:150542800-150545400	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:150542800-150545400	Genic enhancers	Muscle Satellite Cultured Cells	--
48	chr1:150542800-150545600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:150542800-150545800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:150542800-150547800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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