Variant report

Variant	rs4847193
Chromosome Location	chr1:94339683-94339684
allele	C/T
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:5)
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	CTCF	chr1:94339588-94339884	MCF-7	breast:	n/a	n/a
2	SMC3	chr1:94339635-94339889	K562	blood:	n/a	n/a
3	RAD21	chr1:94339526-94340064	A549	lung:	n/a	n/a
4	POLR2A	chr1:94339555-94340282	A549	lung:	n/a	n/a
5	CTCF	chr1:94339677-94339936	A549	lung:	n/a	n/a
6	CTCF	chr1:94339660-94339810	HRPEpiC	eye:	n/a	n/a
7	POLR2A	chr1:94333938-94341380	K562	blood:	n/a	n/a
8	CTCF	chr1:94339683-94339962	HUVEC	blood vessel:	n/a	n/a
9	SMC3	chr1:94339633-94339930	GM12878	blood:	n/a	n/a
10	SMC3	chr1:94339618-94339984	Hela-S3	cervix:	n/a	n/a
11	RAD21	chr1:94339598-94339996	IMR90	lung:	n/a	n/a
12	RAD21	chr1:94339667-94340060	MCF-7	breast:	n/a	n/a
13	CTCF	chr1:94339655-94339889	HepG2	liver:	n/a	n/a
14	POLR2A	chr1:94339537-94339890	K562	blood:	n/a	n/a
15	RAD21	chr1:94339548-94340021	MCF-7	breast:	n/a	n/a
16	RAD21	chr1:94339467-94340128	HCT-116	colon:	n/a	n/a
17	CTCF	chr1:94339536-94340039	A549	lung:	n/a	n/a
18	CTCF	chr1:94339614-94340039	IMR90	lung:	n/a	n/a
19	RAD21	chr1:94339604-94339973	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr1:94339530-94340278	A549	lung:	n/a	n/a
21	CTCF	chr1:94339680-94339953	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr1:94339649-94339980	A549	lung:	n/a	n/a
23	RAD21	chr1:94339634-94339941	ECC-1	luminal epithelium:	n/a	n/a
24	RAD21	chr1:94339638-94339988	SK-N-SH_RA	brain:	n/a	n/a
25	ZKSCAN1	chr1:94339589-94340157	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr1:94339678-94339893	A549	lung:	n/a	n/a
27	SMC3	chr1:94339568-94340206	SK-N-SH	brain:	n/a	n/a
28	CTCF	chr1:94339680-94339830	HCM	heart:	n/a	n/a
29	RAD21	chr1:94339621-94339987	GM12878	blood:	n/a	n/a
30	CTCF	chr1:94339557-94339964	HepG2	liver:	n/a	n/a
31	RAD21	chr1:94339480-94340087	HCT-116	colon:	n/a	n/a
32	CTCF	chr1:94339680-94339830	GM12869	blood:	n/a	n/a
33	CTCF	chr1:94339624-94339912	K562	blood:	n/a	n/a
34	RAD21	chr1:94339662-94339872	K562	blood:	n/a	n/a
35	CTCF	chr1:94339641-94339933	A549	lung:	n/a	n/a
36	RAD21	chr1:94339627-94339880	GM12878	blood:	n/a	n/a
37	RAD21	chr1:94339652-94339991	K562	blood:	n/a	n/a
38	CTCF	chr1:94339416-94340354	SK-N-SH	brain:	n/a	n/a
39	CTCF	chr1:94339542-94340135	HCT-116	colon:	n/a	n/a
40	SMC3	chr1:94339617-94339956	HepG2	liver:	n/a	n/a
41	ZNF143	chr1:94339650-94339998	GM12878	blood:	n/a	n/a
42	CTCF	chr1:94339600-94340031	GM12878	blood:	n/a	n/a
43	POLR2A	chr1:94339380-94340029	HepG2	liver:	n/a	n/a
44	RAD21	chr1:94339605-94340024	H1-hESC	embryonic stem cell:	n/a	n/a
45	RAD21	chr1:94339348-94340190	SK-N-SH	brain:	n/a	n/a
46	RAD21	chr1:94339601-94339968	HepG2	liver:	n/a	n/a
47	RAD21	chr1:94339534-94340059	HepG2	liver:	n/a	n/a
48	RAD21	chr1:94339671-94339907	GM12878	blood:	n/a	n/a
49	RCOR1	chr1:94339646-94339933	K562	blood:	n/a	n/a
50	RAD21	chr1:94339586-94340012	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:94336837..94340766-chr1:94341847..94346212,6	K562	blood:
2	chr1:94335249..94337846-chr1:94338670..94340764,2	K562	blood:
3	chr1:94337226..94339966-chr1:94373816..94376815,2	K562	blood:
4	chr1:94310452..94313071-chr1:94339527..94341064,2	K562	blood:
5	chr1:94339429..94339939-chr1:94801277..94802005,2	MCF-7	breast:

No data

Variant related genes	Relation type
DNTTIP2	TF binding region
ENSG00000211575	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000023909	Chromatin interaction
ENSG00000067334	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1051394	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11165021	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11165022	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11165023	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11165025	0.86[ASN][1000 genomes]
rs11165026	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12029548	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12029637	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12029670	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12041975	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12758972	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2092698	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2092699	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2103784	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2143992	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2273165	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2273166	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2391321	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3789459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847191	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4847263	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4847264	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6664876	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6666633	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6667991	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6681169	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6681265	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6684054	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6697189	0.86[ASN][1000 genomes]
rs7364663	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7513489	0.85[ASN][1000 genomes]
rs7513786	0.89[ASN][1000 genomes]
rs7514828	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7517632	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7518940	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7555136	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7556047	0.82[ASN][1000 genomes]
rs7556107	0.85[ASN][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	nsv998755	chr1:94294015-94341712	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4847193	RP11-488P3.1	cis	Skin Sun Exposed Lower leg	GTEx
rs4847193	RP11-488P3.1	cis	lung	GTEx
rs4847193	DNTTIP2	Cis_1M	lymphoblastoid	RTeQTL
rs4847193	RP11-488P3.1	cis	Muscle Skeletal	GTEx
rs4847193	RP11-488P3.1	cis	Thyroid	GTEx
rs4847193	RP11-488P3.1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94322200-94343600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:94329800-94343600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:94330600-94343600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:94332400-94342000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:94332800-94340800	Strong transcription	Left Ventricle	heart
6	chr1:94332800-94341400	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:94332800-94341600	Strong transcription	Primary B cells from peripheral blood	blood
8	chr1:94332800-94341600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:94332800-94341800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:94332800-94341800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:94332800-94341800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:94332800-94343200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:94332800-94343200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:94333000-94341600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:94333000-94342000	Strong transcription	Fetal Brain Female	brain
16	chr1:94333200-94341600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr1:94333200-94341600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:94333200-94343200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:94333400-94341600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:94333600-94341800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:94333800-94341200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:94333800-94341600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:94333800-94343000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:94334000-94340800	Strong transcription	Brain Anterior Caudate	brain
25	chr1:94334000-94341200	Strong transcription	Primary T cells from cord blood	blood
26	chr1:94334000-94341200	Strong transcription	Primary hematopoietic stem cells	blood
27	chr1:94334000-94341600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:94334000-94341600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:94334000-94341600	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:94334000-94341800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:94334000-94341800	Strong transcription	Fetal Kidney	kidney
32	chr1:94334000-94341800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr1:94334000-94342000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:94334000-94343000	Strong transcription	Fetal Thymus	thymus
35	chr1:94334000-94343400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:94334200-94340800	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr1:94334200-94341200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
38	chr1:94334200-94341600	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr1:94334200-94341600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:94334200-94341600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:94334200-94341600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:94334200-94341600	Strong transcription	Adipose Nuclei	Adipose
43	chr1:94334200-94341600	Strong transcription	Liver	Liver
44	chr1:94334200-94341600	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr1:94334200-94341800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:94334200-94341800	Strong transcription	Brain Germinal Matrix	brain
47	chr1:94334200-94341800	Strong transcription	Rectal Smooth Muscle	rectum
48	chr1:94334200-94342000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr1:94334200-94343200	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr1:94334200-94343200	Strong transcription	H9 Cell Line	embryonic stem cell

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