Variant report

Variant	rs636424
Chromosome Location	chr1:47132017-47132018
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:47131971-47132165	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:47131887..47139340-chr1:47181784..47186573,11	K562	blood:
2	chr1:47124121..47126688-chr1:47131484..47133286,2	K562	blood:
3	chr1:47130612..47137538-chr1:47138503..47143012,9	K562	blood:
4	chr1:47131372..47133587-chr1:47151853..47154733,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MOB3C-1	chr1:47131582-47132047	NONHSAT003031

No data

Variant related genes	Relation type
TEX38	TF binding region
ATPAF1	TF binding region
ENSG00000159658	Chromatin interaction
ENSG00000228237	Chromatin interaction
ENSG00000123472	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10890410	0.96[ASN][1000 genomes]
rs10890414	0.93[ASN][1000 genomes]
rs11211332	0.89[EUR][1000 genomes]
rs11211343	0.93[ASN][1000 genomes]
rs11211347	0.82[ASN][1000 genomes]
rs11801744	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12562113	0.92[ASN][1000 genomes]
rs12566278	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12568734	0.93[ASN][1000 genomes]
rs1258055	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1258058	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1258063	0.90[ASN][1000 genomes]
rs1258064	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1258065	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1258066	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1258068	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1258072	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1268714	0.92[ASN][1000 genomes]
rs1273237	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13374909	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1745376	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1933932	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2146560	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2181412	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2241863	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2241864	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2439442	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476153	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2476155	0.92[ASN][1000 genomes]
rs2476156	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2476157	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2476159	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2486160	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2486162	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3011290	0.93[ASN][1000 genomes]
rs3766218	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3766220	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3766221	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3766222	0.96[ASN][1000 genomes]
rs3766223	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56771521	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs57495753	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs582269	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs582323	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs582760	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs583649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58678760	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59479990	0.93[ASN][1000 genomes]
rs596794	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs597221	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs604233	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs604264	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs611919	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629412	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs631368	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs631840	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs636082	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636122	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs648822	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs654544	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs655369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs657166	1.00[ASN][1000 genomes]
rs669647	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs673134	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs675731	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs678466	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs683585	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs685862	0.95[AMR][1000 genomes]
rs689300	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs723333	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs724309	0.81[ASN][1000 genomes]
rs72896683	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72900715	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs736188	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9094	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47101600-47133000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:47103000-47132800	Weak transcription	Spleen	Spleen
3	chr1:47105000-47132800	Weak transcription	Stomach Mucosa	stomach
4	chr1:47109400-47132600	Weak transcription	Hela-S3	cervix
5	chr1:47109600-47132600	Weak transcription	HMEC	breast
6	chr1:47115600-47133000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:47118000-47132800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:47119000-47132400	Weak transcription	A549	lung
9	chr1:47119200-47132400	Weak transcription	Small Intestine	intestine
10	chr1:47121000-47133000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:47122600-47132200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:47122600-47133000	Weak transcription	Gastric	stomach
13	chr1:47122800-47132200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:47123600-47132600	Weak transcription	HUVEC	blood vessel
15	chr1:47123600-47133000	Weak transcription	HSMMtube	muscle
16	chr1:47125200-47133000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:47125400-47133000	Weak transcription	NH-A	brain
18	chr1:47127000-47132200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:47127400-47132200	Weak transcription	Fetal Lung	lung
20	chr1:47129200-47132200	Strong transcription	Fetal Intestine Large	intestine
21	chr1:47129200-47132200	Strong transcription	Fetal Intestine Small	intestine
22	chr1:47129400-47132200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:47129400-47132200	Strong transcription	Fetal Brain Female	brain
24	chr1:47130400-47133000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:47130600-47132200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:47130600-47132800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:47130800-47132200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:47130800-47132400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr1:47130800-47132600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:47130800-47132600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:47130800-47132600	Weak transcription	Right Atrium	heart
32	chr1:47130800-47132600	Weak transcription	NHEK	skin
33	chr1:47130800-47133000	Weak transcription	Esophagus	oesophagus
34	chr1:47131000-47132200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:47131000-47132200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:47131000-47132200	Weak transcription	Fetal Kidney	kidney
37	chr1:47131000-47132200	Weak transcription	Dnd41	blood
38	chr1:47131000-47132400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:47131000-47132400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:47131000-47132400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr1:47131000-47132400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:47131000-47132400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:47131000-47132600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:47131000-47132600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:47131000-47132600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:47131000-47132600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:47131000-47132800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:47131000-47132800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:47131000-47132800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr1:47131000-47132800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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