Variant report

Variant	rs74133000
Chromosome Location	chr1:180600780-180600781
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	REST	chr1:180600744-180601566	A549	lung:	n/a	n/a
2	SP1	chr1:180600711-180601753	A549	lung:	n/a	chr1:180601136-180601145 chr1:180601140-180601152 chr1:180601147-180601156 chr1:180601142-180601151 chr1:180601040-180601052 chr1:180601588-180601597 chr1:180601140-180601152 chr1:180601146-180601155 chr1:180601069-180601080 chr1:180601145-180601157 chr1:180601040-180601052 chr1:180601147-180601156 chr1:180601069-180601081 chr1:180601142-180601156 chr1:180601145-180601157 chr1:180601146-180601156 chr1:180601040-180601051 chr1:180601070-180601080 chr1:180601135-180601147 chr1:180601070-180601079 chr1:180601146-180601156 chr1:180601141-180601150
3	POLR2A	chr1:180600775-180601806	K562	blood:	n/a	n/a
4	POLR2A	chr1:180600772-180601579	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr1:180600776-180601532	K562	blood:	n/a	n/a
6	POLR2A	chr1:180600769-180601518	HCT-116	colon:	n/a	n/a
7	PML	chr1:180600336-180601941	GM12878	blood:	n/a	chr1:180601875-180601883
8	POLR2A	chr1:180600772-180601425	HCT-116	colon:	n/a	n/a
9	POLR2A	chr1:180600742-180601666	GM12892	blood:	n/a	n/a
10	TBL1XR1	chr1:180600758-180601244	K562	blood:	n/a	n/a
11	RCOR1	chr1:180600369-180601714	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:180600585-180601664	PFSK-1	brain:	n/a	n/a
13	ZNF143	chr1:180600776-180601976	Hela-S3	cervix:	n/a	n/a
14	RAD21	chr1:180600716-180601266	MCF-7	breast:	n/a	chr1:180601133-180601143 chr1:180601133-180601145
15	POLR2A	chr1:180600778-180601829	H1-hESC	embryonic stem cell:	n/a	n/a
16	RFX5	chr1:180600746-180601230	GM12878	blood:	n/a	chr1:180601110-180601125 chr1:180601113-180601128 chr1:180601113-180601128 chr1:180601113-180601128 chr1:180601112-180601129
17	POLR2A	chr1:180600752-180601476	U87	brain:	n/a	n/a
18	POLR2A	chr1:180600775-180601788	GM19099	blood:	n/a	n/a
19	CBX3	chr1:180600719-180601943	K562	blood:	n/a	n/a
20	POLR2A	chr1:180600778-180601423	K562	blood:	n/a	n/a
21	ARID3A	chr1:180600733-180601139	K562	blood:	n/a	n/a
22	IRF1	chr1:180600761-180601401	K562	blood:	n/a	chr1:180601067-180601081 chr1:180601145-180601159 chr1:180601135-180601149
23	MAX	chr1:180600699-180602054	A549	lung:	n/a	chr1:180601114-180601123
24	TAF1	chr1:180600776-180601763	A549	lung:	n/a	n/a
25	NFIC	chr1:180600677-180601414	GM12878	blood:	n/a	n/a
26	POLR2A	chr1:180600774-180601918	K562	blood:	n/a	n/a
27	GTF2F1	chr1:180600714-180601350	K562	blood:	n/a	n/a
28	CTCF	chr1:180600760-180600910	HA-sp	spinal cord:	n/a	n/a
29	MYC	chr1:180600725-180601879	NB4	blood:	n/a	chr1:180601114-180601123
30	HEY1	chr1:180600776-180601426	K562	blood:	n/a	chr1:180601141-180601156
31	MXI1	chr1:180600557-180601987	GM12878	blood:	n/a	chr1:180601114-180601129 chr1:180601112-180601127
32	CTCF	chr1:180600775-180601410	K562	blood:	n/a	n/a
33	MXI1	chr1:180600662-180603729	SK-N-SH	brain:	n/a	chr1:180601114-180601129 chr1:180601112-180601127
34	TAF1	chr1:180600770-180601972	H1-neurons	neurons:	n/a	n/a
35	TAF1	chr1:180600752-180601973	K562	blood:	n/a	n/a
36	MXI1	chr1:180600749-180601429	K562	blood:	n/a	chr1:180601114-180601129 chr1:180601112-180601127
37	SP1	chr1:180600772-180601304	HepG2	liver:	n/a	chr1:180601136-180601145 chr1:180601140-180601152 chr1:180601147-180601156 chr1:180601142-180601151 chr1:180601040-180601052 chr1:180601140-180601152 chr1:180601146-180601155 chr1:180601069-180601080 chr1:180601145-180601157 chr1:180601040-180601052 chr1:180601147-180601156 chr1:180601069-180601081 chr1:180601142-180601156 chr1:180601145-180601157 chr1:180601146-180601156 chr1:180601040-180601051 chr1:180601070-180601080 chr1:180601135-180601147 chr1:180601070-180601079 chr1:180601146-180601156 chr1:180601141-180601150
38	RCOR1	chr1:180600768-180601864	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr1:180600772-180603328	MCF10A-Er-Src	breast:	n/a	n/a
40	ZNF384	chr1:180600109-180600969	GM12878	blood:	n/a	n/a
41	TCF12	chr1:180600725-180602064	A549	lung:	n/a	chr1:180602011-180602020 chr1:180601488-180601495
42	RAD21	chr1:180600714-180601902	ECC-1	luminal epithelium:	n/a	chr1:180601133-180601143 chr1:180601292-180601306 chr1:180601133-180601145
43	MXI1	chr1:180600560-180603551	IMR90	lung:	n/a	chr1:180601114-180601129 chr1:180601112-180601127
44	POLR2A	chr1:180600256-180601905	Raji	blood:	n/a	n/a
45	POLR2A	chr1:180600757-180600810	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:180600775-180601618	GM12878	blood:	n/a	n/a
47	CHD1	chr1:180600439-180600807	GM12878	blood:	n/a	n/a
48	REST	chr1:180600552-180603720	H1-neurons	neurons:	n/a	chr1:180602973-180602993 chr1:180601797-180601810 chr1:180602973-180602993 chr1:180602973-180602987
49	ZNF143	chr1:180600601-180601955	GM12878	blood:	n/a	n/a
50	POLR2A	chr1:180600757-180601657	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:180486117..180489431-chr1:180599413..180603700,5	MCF-7	breast:
2	chr1:180599642..180602569-chr1:180990925..180993189,3	MCF-7	breast:
3	chr1:180599613..180601233-chr1:180805149..180807716,2	K562	blood:
4	chr1:180470531..180473320-chr1:180599332..180602016,2	K562	blood:
5	chr1:180470493..180473506-chr1:180597830..180602116,4	MCF-7	breast:
6	chr1:180598794..180600928-chr1:181056427..181059135,2	K562	blood:

Variant related genes	Relation type
XPR1	TF binding region
ENSG00000135823	Chromatin interaction
ENSG00000206905	Chromatin interaction
ENSG00000162783	Chromatin interaction
ENSG00000135847	Chromatin interaction
ENSG00000143324	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs55846815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56150326	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56248351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57076921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57611740	1.00[AMR][1000 genomes]
rs58167853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58263443	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73047669	1.00[EUR][1000 genomes]
rs74132998	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74135803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74135814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74135816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74135829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74135834	1.00[AMR][1000 genomes]
rs74135835	1.00[EUR][1000 genomes]
rs74135840	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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180593200-180601000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:180599000-180600800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:180599200-180600800	Enhancers	Adipose Nuclei	Adipose
4	chr1:180599400-180600800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:180599400-180600800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:180599400-180600800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:180599400-180601000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:180599400-180601000	Enhancers	Osteobl	bone
9	chr1:180599600-180601000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:180599600-180601200	Weak transcription	Right Atrium	heart
11	chr1:180599600-180601200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr1:180599800-180601000	Enhancers	Primary B cells from peripheral blood	blood
13	chr1:180600000-180600800	Enhancers	Right Ventricle	heart
14	chr1:180600000-180601000	Enhancers	Fetal Intestine Large	intestine
15	chr1:180600000-180601200	Enhancers	Primary B cells from cord blood	blood
16	chr1:180600200-180600800	Enhancers	Fetal Kidney	kidney
17	chr1:180600200-180600800	Enhancers	Psoas Muscle	Psoas
18	chr1:180600200-180600800	Flanking Active TSS	HepG2	liver
19	chr1:180600200-180600800	Enhancers	K562	blood
20	chr1:180600200-180601000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:180600200-180601000	Enhancers	Stomach Mucosa	stomach
22	chr1:180600200-180601200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:180600200-180601200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:180600400-180600800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr1:180600400-180600800	Enhancers	Primary hematopoietic stem cells	blood
26	chr1:180600400-180600800	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr1:180600400-180600800	Enhancers	Brain Anterior Caudate	brain
28	chr1:180600400-180600800	Enhancers	Brain Cingulate Gyrus	brain
29	chr1:180600400-180600800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:180600400-180600800	Enhancers	Fetal Muscle Leg	muscle
31	chr1:180600400-180600800	Enhancers	Fetal Stomach	stomach
32	chr1:180600400-180600800	Enhancers	Pancreas	Pancrea
33	chr1:180600400-180601000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:180600400-180601000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr1:180600400-180601000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:180600400-180601000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr1:180600400-180601000	Enhancers	Liver	Liver
38	chr1:180600400-180601000	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr1:180600400-180601000	Enhancers	Fetal Intestine Small	intestine
40	chr1:180600400-180601000	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr1:180600400-180601000	Flanking Active TSS	Dnd41	blood
42	chr1:180600400-180601200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:180600400-180601200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:180600400-180601200	Enhancers	Brain Angular Gyrus	brain
45	chr1:180600600-180600800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr1:180600600-180600800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr1:180600600-180600800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr1:180600600-180600800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr1:180600600-180600800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr1:180600600-180600800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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