Variant report

Variant	rs45460992
Chromosome Location	chr1:228296373-228296374
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr1:228296239-228296523	GM12878	blood:	n/a	n/a
2	EBF1	chr1:228295768-228297810	GM12878	blood:	n/a	chr1:228296439-228296450
3	HCFC1	chr1:228296254-228297617	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:228295971-228296423	K562	blood:	n/a	n/a
5	HEY1	chr1:228295812-228296414	K562	blood:	n/a	n/a
6	IRF1	chr1:228296082-228296411	K562	blood:	n/a	n/a
7	POLR2A	chr1:228295964-228297915	K562	blood:	n/a	n/a
8	POLR2A	chr1:228295997-228297471	K562	blood:	n/a	n/a
9	POLR2A	chr1:228295080-228298357	HepG2	liver:	n/a	n/a
10	MAX	chr1:228295800-228296392	K562	blood:	n/a	n/a
11	EBF1	chr1:228296279-228296620	GM12878	blood:	n/a	chr1:228296439-228296450
12	POLR2A	chr1:228295712-228298089	K562	blood:	n/a	n/a
13	TEAD4	chr1:228296013-228297282	K562	blood:	n/a	n/a
14	ESRRA	chr1:228296276-228297984	GM12878	blood:	n/a	chr1:228297198-228297207 chr1:228297491-228297504 chr1:228297843-228297856
15	MXI1	chr1:228296060-228298235	IMR90	lung:	n/a	n/a
16	ATF1	chr1:228296014-228297277	K562	blood:	n/a	n/a
17	JUN	chr1:228296050-228298705	K562	blood:	n/a	n/a
18	POLR2A	chr1:228295848-228298694	HepG2	liver:	n/a	n/a
19	CREB1	chr1:228296305-228297601	K562	blood:	n/a	n/a
20	POLR2A	chr1:228295973-228298532	K562	blood:	n/a	n/a
21	TBP	chr1:228296120-228297421	K562	blood:	n/a	n/a
22	SIN3AK20	chr1:228296021-228296512	K562	blood:	n/a	n/a
23	HEY1	chr1:228296136-228296432	K562	blood:	n/a	n/a
24	EBF1	chr1:228296307-228296602	GM12878	blood:	n/a	chr1:228296439-228296450

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228295623..228298108-chr1:228335544..228338438,2	MCF-7	breast:
2	chr1:228294222..228297212-chr1:228327852..228330069,2	MCF-7	breast:
3	chr1:228295318..228298683-chr1:228360322..228363984,4	K562	blood:
4	chr1:228295479..228298124-chr1:228352385..228354527,2	MCF-7	breast:
5	chr1:228266682..228273620-chr1:228293839..228298603,9	MCF-7	breast:
6	chr1:228292983..228294840-chr1:228295520..228297774,2	MCF-7	breast:
7	chr1:228274118..228278669-chr1:228294195..228297645,6	MCF-7	breast:
8	chr1:228293945..228298846-chr1:228325398..228330582,13	K562	blood:
9	chr1:228294705..228298588-chr1:228325821..228329680,6	MCF-7	breast:
10	chr1:228295591..228297111-chr1:228358549..228360057,2	K562	blood:
11	chr1:228295286..228298610-chr1:228351640..228355026,4	K562	blood:
12	chr1:228294689..228298417-chr1:228352364..228354856,6	MCF-7	breast:
13	chr1:228295402..228297803-chr1:228330568..228332279,2	MCF-7	breast:
14	chr1:228288384..228298705-chr1:228351640..228357240,26	K562	blood:
15	chr1:228295585..228298584-chr1:228645620..228647778,2	K562	blood:
16	chr1:228293945..228298682-chr1:228326047..228331152,9	K562	blood:
17	chr1:228295585..228298429-chr1:228645232..228648455,3	K562	blood:
18	chr1:228295500..228297827-chr1:228593936..228595478,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf35-2	chr1:228296138-228296717	NONHSAT009965
2	lnc-C1orf35-2	chr1:228296138-228296598	NONHSAT009967
3	lnc-C1orf35-2	chr1:228296138-228296732	NONHSAT009968
4	lnc-C1orf35-2	chr1:228296138-228296722	NONHSAT009969
5	lnc-C1orf35-2	chr1:228296138-228296722	NONHSAT009973
6	lnc-C1orf35-2	chr1:228295963-228296722	NONHSAT009974

No data

Variant related genes	Relation type
MRPL55	TF binding region
C1orf35	TF binding region
ENSG00000143774	Chromatin interaction
ENSG00000143793	Chromatin interaction
ENSG00000231563	Chromatin interaction
ENSG00000196890	Chromatin interaction
ENSG00000181218	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000154370	Chromatin interaction
ENSG00000143761	Chromatin interaction
ENSG00000203684	Chromatin interaction
ENSG00000198835	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs16848361	1.00[EUR][1000 genomes]
rs2231711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34658204	1.00[EUR][1000 genomes]
rs41270181	1.00[EUR][1000 genomes]
rs41314262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56280452	1.00[EUR][1000 genomes]
rs56394518	1.00[EUR][1000 genomes]
rs57624754	1.00[EUR][1000 genomes]
rs58696607	1.00[EUR][1000 genomes]
rs58787263	1.00[EUR][1000 genomes]
rs60538700	1.00[EUR][1000 genomes]
rs60642596	1.00[EUR][1000 genomes]
rs60777646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61091413	1.00[EUR][1000 genomes]
rs73108778	1.00[EUR][1000 genomes]
rs74140818	1.00[EUR][1000 genomes]
rs74140819	1.00[EUR][1000 genomes]
rs74140821	1.00[EUR][1000 genomes]
rs74140822	1.00[EUR][1000 genomes]
rs74140823	1.00[EUR][1000 genomes]
rs74140994	1.00[EUR][1000 genomes]
rs74143607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74143612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74143614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74143615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74143616	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8192631	1.00[EUR][1000 genomes]
rs9662484	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
7	nsv832803	chr1:228155118-228313681	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
9	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
10	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
11	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
12	nsv482143	chr1:228294380-228297013	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228291400-228296400	Weak transcription	Aorta	Aorta
2	chr1:228291800-228296400	Weak transcription	Small Intestine	intestine
3	chr1:228294600-228296400	Weak transcription	Ovary	ovary
4	chr1:228295600-228296400	Enhancers	Pancreas	Pancrea
5	chr1:228295600-228296400	Flanking Active TSS	GM12878-XiMat	blood
6	chr1:228295600-228296600	Enhancers	Spleen	Spleen
7	chr1:228295800-228296400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:228295800-228296400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:228295800-228296400	Enhancers	Gastric	stomach
10	chr1:228295800-228296400	Enhancers	Lung	lung
11	chr1:228295800-228296400	Flanking Active TSS	HMEC	breast
12	chr1:228295800-228296400	Flanking Active TSS	K562	blood
13	chr1:228295800-228296600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr1:228295800-228296600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:228295800-228296600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:228295800-228296600	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr1:228295800-228296600	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr1:228295800-228296600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr1:228295800-228296600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr1:228295800-228296600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
21	chr1:228295800-228296600	Flanking Active TSS	Dnd41	blood
22	chr1:228295800-228296800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:228295800-228296800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:228295800-228296800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:228295800-228296800	Flanking Active TSS	Liver	Liver
26	chr1:228295800-228296800	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr1:228295800-228296800	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr1:228295800-228296800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr1:228295800-228297000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:228295800-228297000	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr1:228295800-228297400	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr1:228295800-228297800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:228296000-228296400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:228296000-228296400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:228296000-228296400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:228296000-228296400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:228296000-228296400	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
38	chr1:228296000-228296400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:228296000-228296400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:228296000-228296400	Enhancers	Esophagus	oesophagus
41	chr1:228296000-228296400	Enhancers	Stomach Mucosa	stomach
42	chr1:228296000-228296400	Flanking Active TSS	Hela-S3	cervix
43	chr1:228296000-228296400	Flanking Active TSS	HSMM	muscle
44	chr1:228296000-228296400	Flanking Active TSS	NHEK	skin
45	chr1:228296000-228296600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:228296000-228296600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr1:228296000-228296600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:228296000-228296600	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr1:228296000-228296600	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr1:228296000-228296600	Enhancers	Sigmoid Colon	Sigmoid Colon

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