Variant report

Variant	rs114871012
Chromosome Location	chr1:211431423-211431424
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr1:211430859-211432505	K562	blood:	n/a	chr1:211431508-211431525
2	UBTF	chr1:211431414-211434505	K562	blood:	n/a	n/a
3	POLR2A	chr1:211431331-211433272	HUVEC	blood vessel:	n/a	n/a
4	MAX	chr1:211431417-211433266	A549	lung:	n/a	chr1:211432409-211432419 chr1:211432314-211432324
5	POLR2A	chr1:211431419-211433532	H1-neurons	neurons:	n/a	n/a
6	TCF12	chr1:211431361-211433146	A549	lung:	n/a	chr1:211431625-211431633
7	MYC	chr1:211431167-211432603	MCF10A-Er-Src	breast:	n/a	chr1:211432409-211432419 chr1:211432314-211432324
8	TBP	chr1:211431229-211432844	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:211431386-211432568	U87	brain:	n/a	n/a
10	POLR2A	chr1:211431412-211432530	GM12878	blood:	n/a	n/a
11	MTA3	chr1:211431389-211432532	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:211431346-211433365	K562	blood:	n/a	n/a
13	TRIM28	chr1:211431400-211432921	K562	blood:	n/a	n/a
14	POLR2A	chr1:211430686-211433120	K562	blood:	n/a	n/a
15	POLR2A	chr1:211431377-211433092	PBDE	blood:	n/a	n/a
16	JUN	chr1:211430435-211433224	K562	blood:	n/a	chr1:211432319-211432328 chr1:211432316-211432325
17	NR2F2	chr1:211431152-211432684	K562	blood:	n/a	n/a
18	MXI1	chr1:211431223-211435034	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr1:211430347-211433230	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:211430790-211434558	K562	blood:	n/a	n/a
21	POLR2A	chr1:211431375-211433133	HepG2	liver:	n/a	n/a
22	IRF1	chr1:211431356-211433027	K562	blood:	n/a	chr1:211432540-211432554 chr1:211432545-211432559 chr1:211431840-211431854
23	GTF2F1	chr1:211431234-211432558	Hela-S3	cervix:	n/a	n/a
24	MAX	chr1:211431332-211433035	Hela-S3	cervix:	n/a	chr1:211432409-211432419 chr1:211432314-211432324
25	POLR2A	chr1:211431386-211432562	U87	brain:	n/a	n/a
26	EP300	chr1:211431285-211432763	K562	blood:	n/a	chr1:211431928-211431942 chr1:211431835-211431849 chr1:211431593-211431607 chr1:211432524-211432540 chr1:211432435-211432451
27	BACH1	chr1:211431413-211431939	K562	blood:	n/a	n/a
28	MYC	chr1:211431255-211433096	K562	blood:	n/a	chr1:211432409-211432419 chr1:211432314-211432324
29	POLR2A	chr1:211431254-211432513	HepG2	liver:	n/a	n/a
30	POLR2A	chr1:211431324-211433358	PFSK-1	brain:	n/a	n/a
31	RCOR1	chr1:211431327-211433095	Hela-S3	cervix:	n/a	n/a
32	REST	chr1:211431197-211434619	H1-neurons	neurons:	n/a	chr1:211433889-211433902 chr1:211432299-211432312
33	POLR2A	chr1:211430635-211433337	K562	blood:	n/a	n/a
34	POLR2A	chr1:211431403-211433105	Hela-S3	cervix:	n/a	n/a
35	PML	chr1:211431362-211433149	GM12878	blood:	n/a	n/a
36	HCFC1	chr1:211431284-211433078	K562	blood:	n/a	n/a
37	POLR2A	chr1:211431409-211433219	SK-N-MC	brain:	n/a	n/a
38	NFIC	chr1:211431072-211432969	SK-N-SH	brain:	n/a	chr1:211431342-211431359
39	RCOR1	chr1:211431388-211432965	K562	blood:	n/a	n/a
40	PML	chr1:211431338-211433195	K562	blood:	n/a	n/a
41	POLR2A	chr1:211431361-211433045	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr1:211430295-211434862	K562	blood:	n/a	n/a
43	TEAD4	chr1:211431394-211432667	K562	blood:	n/a	n/a
44	POLR2A	chr1:211430530-211433111	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr1:211431422-211433099	PANC-1	pancreas:	n/a	n/a
46	MAZ	chr1:211431094-211434750	IMR90	lung:	n/a	chr1:211432409-211432419 chr1:211433819-211433829 chr1:211432314-211432324
47	CHD1	chr1:211430767-211432510	H1-hESC	embryonic stem cell:	n/a	chr1:211432325-211432335
48	ZNF143	chr1:211430921-211432889	K562	blood:	n/a	chr1:211432558-211432576
49	REST	chr1:211431315-211432634	A549	lung:	n/a	chr1:211432299-211432312
50	MYC	chr1:211431350-211432879	MCF10A-Er-Src	breast:	n/a	chr1:211432409-211432419 chr1:211432314-211432324

No.	Distal block	Cell Line	Cell type
1	chr1:210543442..210549646-chr1:211430130..211435518,10	MCF-7	breast:
2	chr1:211431380..211432214-chr14:75745176..75745718,2	Hela-S3	cervix:
3	chr1:210545161..210548943-chr1:211431162..211434734,10	MCF-7	breast:
4	chr1:211429664..211434083-chr1:211498779..211503937,6	K562	blood:
5	chr1:211430859..211434419-chr1:211555069..211558654,5	K562	blood:
6	chr1:211429664..211435180-chr1:211498779..211503937,6	K562	blood:
7	chr1:211429991..211432106-chr1:211750411..211752434,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNH1-2	chr1:211431307-211431917	NONHSAT009281

Variant related genes	Relation type
RCOR3	TF binding region
ENSG00000170385	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000153363	Chromatin interaction
ENSG00000082512	Chromatin interaction
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343270	chr1:211431354-211434202	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211430400-211431600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr1:211430400-211431600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:211430400-211431600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr1:211430400-211431600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:211430600-211431600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:211430600-211431600	Flanking Active TSS	A549	lung
7	chr1:211430600-211431600	Flanking Active TSS	NHEK	skin
8	chr1:211430600-211431800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr1:211430600-211432200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:211430600-211432200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr1:211430600-211434600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:211430600-211434600	Active TSS	H1 Cell Line	embryonic stem cell
13	chr1:211430800-211431600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr1:211430800-211431600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:211430800-211431600	Flanking Active TSS	Hela-S3	cervix
16	chr1:211430800-211431600	Flanking Active TSS	HMEC	breast
17	chr1:211430800-211431800	Flanking Active TSS	NH-A	brain
18	chr1:211430800-211432000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr1:211430800-211432000	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr1:211430800-211432000	Bivalent/Poised TSS	HepG2	liver
21	chr1:211430800-211432200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:211430800-211432200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr1:211430800-211432400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:211430800-211434600	Active TSS	Aorta	Aorta
25	chr1:211431000-211431600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:211431000-211431600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:211431000-211431600	Weak transcription	Small Intestine	intestine
28	chr1:211431000-211431800	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr1:211431000-211432000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:211431000-211432000	Active TSS	Brain Germinal Matrix	brain
31	chr1:211431000-211434400	Active TSS	Brain Anterior Caudate	brain
32	chr1:211431000-211434400	Active TSS	NHLF	lung
33	chr1:211431000-211434800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:211431000-211434800	Active TSS	Fetal Intestine Large	intestine
35	chr1:211431200-211431600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:211431200-211431600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr1:211431200-211431600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr1:211431200-211431600	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr1:211431200-211431600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr1:211431200-211431600	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr1:211431200-211431600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr1:211431200-211431600	Flanking Active TSS	Fetal Brain Male	brain
43	chr1:211431200-211431600	Flanking Active TSS	Fetal Brain Female	brain
44	chr1:211431200-211431600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr1:211431200-211431600	Flanking Active TSS	Stomach Mucosa	stomach
46	chr1:211431200-211431800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:211431200-211431800	Flanking Active TSS	Liver	Liver
48	chr1:211431200-211431800	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr1:211431200-211431800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr1:211431200-211431800	Active TSS	Right Atrium	heart

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