Variant report

Variant	rs236327
Chromosome Location	chr1:94057966-94057967
allele	A/G
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	MAX	chr1:94057163-94058270	ECC-1	luminal epithelium:	n/a	chr1:94057611-94057621
2	TAF1	chr1:94057318-94058091	HepG2	liver:	n/a	n/a
3	MYBL2	chr1:94056892-94058052	HepG2	liver:	n/a	n/a
4	POLR2A	chr1:94057137-94058481	PFSK-1	brain:	n/a	n/a
5	MBD4	chr1:94057120-94058544	HepG2	liver:	n/a	n/a
6	EP300	chr1:94056874-94057981	HepG2	liver:	n/a	chr1:94057621-94057631 chr1:94057084-94057097
7	FOXA1	chr1:94056858-94057998	HepG2	liver:	n/a	chr1:94057695-94057707
8	POLR2A	chr1:94057236-94058879	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:94057671-94058392	Hela-S3	cervix:	n/a	n/a
10	REST	chr1:94057220-94058152	HepG2	liver:	n/a	n/a
11	TBP	chr1:94057166-94058528	HepG2	liver:	n/a	n/a
12	YY1	chr1:94057220-94058091	HepG2	liver:	n/a	n/a
13	HEY1	chr1:94056860-94058945	HepG2	liver:	n/a	n/a
14	POLR2A	chr1:94057944-94058234	Hela-S3	cervix:	n/a	n/a
15	MYBL2	chr1:94056859-94058226	HepG2	liver:	n/a	n/a
16	RCOR1	chr1:94057193-94058084	HepG2	liver:	n/a	n/a
17	NFIC	chr1:94057102-94058256	ECC-1	luminal epithelium:	n/a	chr1:94057471-94057488 chr1:94057472-94057488
18	POLR2A	chr1:94057281-94058420	HepG2	liver:	n/a	n/a
19	MYC	chr1:94057312-94058054	HepG2	liver:	n/a	chr1:94057611-94057621
20	MXI1	chr1:94057054-94058396	HepG2	liver:	n/a	chr1:94057400-94057409
21	RFX5	chr1:94057945-94058143	HepG2	liver:	n/a	n/a
22	MAX	chr1:94057088-94058422	HepG2	liver:	n/a	chr1:94057611-94057621
23	POLR2A	chr1:94057284-94058066	HepG2	liver:	n/a	n/a
24	BHLHE40	chr1:94057253-94058342	HepG2	liver:	n/a	n/a
25	POLR2A	chr1:94057261-94058412	HepG2	liver:	n/a	n/a
26	MAX	chr1:94056964-94059251	HepG2	liver:	n/a	chr1:94057611-94057621
27	POLR2A	chr1:94057268-94058904	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:94057079-94058772	HepG2	liver:	n/a	n/a
29	POLR2A	chr1:94057261-94058811	Hela-S3	cervix:	n/a	n/a
30	JUN	chr1:94057796-94057972	HepG2	liver:	n/a	n/a
31	TCF12	chr1:94057245-94058338	ECC-1	luminal epithelium:	n/a	chr1:94057476-94057483 chr1:94057400-94057410
32	SIN3AK20	chr1:94057237-94057966	HepG2	liver:	n/a	n/a
33	FOXA1	chr1:94056879-94057991	HepG2	liver:	n/a	chr1:94057695-94057707
34	MBD4	chr1:94057335-94058234	HepG2	liver:	n/a	n/a
35	MAX	chr1:94057000-94058505	HepG2	liver:	n/a	chr1:94057611-94057621
36	NFIC	chr1:94056919-94057988	HepG2	liver:	n/a	chr1:94057471-94057488 chr1:94057472-94057488
37	HEY1	chr1:94057857-94058105	HepG2	liver:	n/a	n/a
38	POLR2A	chr1:94057229-94058804	HepG2	liver:	n/a	n/a
39	TAF1	chr1:94057300-94058155	HepG2	liver:	n/a	n/a
40	NFIC	chr1:94056941-94058131	HepG2	liver:	n/a	chr1:94057471-94057488 chr1:94057472-94057488
41	JUND	chr1:94057351-94058041	HepG2	liver:	n/a	n/a
42	POLR2A	chr1:94057179-94058869	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FNBP1L-1	chr1:94057756-94058065	ENSG00000224093.1
2	lnc-FNBP1L-1	chr1:94057807-94058065	ENSG00000224093.1
3	lnc-FNBP1L-1	chr1:94057807-94058065	ENSG00000224093.1
4	lnc-FNBP1L-1	chr1:94057525-94058065	NONHSAT004537

Variant related genes	Relation type
ENSG00000224093	TF binding region
BCAR3	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11164950	1.00[EUR][1000 genomes]
rs1863500	1.00[EUR][1000 genomes]
rs236325	1.00[EUR][1000 genomes]
rs236328	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs236334	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs237424	1.00[EUR][1000 genomes]
rs237426	1.00[EUR][1000 genomes]
rs237427	1.00[EUR][1000 genomes]
rs237428	1.00[EUR][1000 genomes]
rs237429	1.00[EUR][1000 genomes]
rs237430	1.00[EUR][1000 genomes]
rs2449377	1.00[EUR][1000 genomes]
rs2493642	1.00[EUR][1000 genomes]
rs2818968	1.00[EUR][1000 genomes]
rs57438388	1.00[EUR][1000 genomes]
rs57974365	1.00[EUR][1000 genomes]
rs58430978	1.00[EUR][1000 genomes]
rs59039419	1.00[EUR][1000 genomes]
rs60515224	1.00[EUR][1000 genomes]
rs60717381	1.00[EUR][1000 genomes]
rs72961357	1.00[EUR][1000 genomes]
rs72961366	1.00[EUR][1000 genomes]
rs72961373	1.00[EUR][1000 genomes]
rs72961379	1.00[EUR][1000 genomes]
rs72961386	1.00[EUR][1000 genomes]
rs72961389	1.00[EUR][1000 genomes]
rs7547495	1.00[EUR][1000 genomes]
rs7553492	1.00[EUR][1000 genomes]
rs7554661	1.00[EUR][1000 genomes]

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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
2	chr1:94041800-94059400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:94042200-94063200	Weak transcription	Brain Germinal Matrix	brain
4	chr1:94043000-94058400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:94046600-94058200	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:94048200-94059200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:94048200-94059400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:94048400-94059600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:94048600-94064200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:94049600-94059400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:94050000-94059400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:94050800-94059200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:94053000-94058000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:94053000-94058000	Strong transcription	NHEK	skin
15	chr1:94053200-94058200	Strong transcription	NHDF-Ad	bronchial
16	chr1:94053600-94058000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:94053600-94058000	Weak transcription	Right Atrium	heart
18	chr1:94053600-94063000	Genic enhancers	Muscle Satellite Cultured Cells	--
19	chr1:94054200-94058200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:94054200-94058400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:94054400-94061000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:94054600-94058400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr1:94054600-94062000	Weak transcription	Brain Substantia Nigra	brain
24	chr1:94055000-94058200	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:94055000-94059200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:94055200-94058800	Enhancers	Primary hematopoietic stem cells	blood
27	chr1:94055600-94058800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:94055800-94058000	Weak transcription	HSMMtube	muscle
29	chr1:94055800-94058200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:94055800-94061000	Weak transcription	Aorta	Aorta
31	chr1:94056000-94066000	Weak transcription	Ovary	ovary
32	chr1:94056200-94058000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:94056400-94058000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:94056800-94058000	Enhancers	Fetal Thymus	thymus
35	chr1:94056800-94058200	Enhancers	Primary B cells from peripheral blood	blood
36	chr1:94056800-94060200	Enhancers	Pancreas	Pancrea
37	chr1:94057000-94058000	Genic enhancers	Fetal Muscle Leg	muscle
38	chr1:94057000-94058200	Transcr. at gene 5' and 3'	A549	lung
39	chr1:94057000-94058400	Flanking Active TSS	Liver	Liver
40	chr1:94057000-94058800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr1:94057000-94060200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:94057000-94060200	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr1:94057000-94060200	Genic enhancers	HMEC	breast
44	chr1:94057200-94058000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
45	chr1:94057200-94058000	Genic enhancers	Adipose Nuclei	Adipose
46	chr1:94057200-94058000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr1:94057200-94058000	Genic enhancers	Right Ventricle	heart
48	chr1:94057200-94058200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:94057200-94058200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:94057200-94058200	Enhancers	Skeletal Muscle Female	skeletal muscle

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