Variant report

Variant	rs59053530
Chromosome Location	chr1:113185983-113185984
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113162254..113164649-chr1:113184211..113186438,3	K562	blood:
2	chr1:113168098..113169981-chr1:113185356..113187404,2	K562	blood:
3	chr1:113185385..113187833-chr1:113187867..113189719,2	K562	blood:
4	chr1:113185627..113187951-chr1:113190592..113192207,2	K562	blood:
5	chr1:113162254..113164649-chr1:113184211..113186438,2	K562	blood:
6	chr1:113183921..113186254-chr1:113229181..113230777,2	MCF-7	breast:
7	chr1:113183818..113187593-chr1:113245364..113249347,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000155366	Chromatin interaction
ENSG00000235299	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000007341	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10399919	1.00[AMR][1000 genomes]
rs11102519	1.00[AMR][1000 genomes]
rs11102521	1.00[AMR][1000 genomes]
rs12060267	1.00[AMR][1000 genomes]
rs12069740	1.00[AMR][1000 genomes]
rs12073750	1.00[AMR][1000 genomes]
rs12074157	1.00[AMR][1000 genomes]
rs12077330	1.00[AMR][1000 genomes]
rs12087862	1.00[AMR][1000 genomes]
rs12095563	1.00[AMR][1000 genomes]
rs17030592	1.00[AMR][1000 genomes]
rs4424506	1.00[AMR][1000 genomes]
rs57354954	0.86[AFR][1000 genomes]
rs57573777	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58634778	1.00[AMR][1000 genomes]
rs61203550	1.00[AMR][1000 genomes]
rs72982599	1.00[AMR][1000 genomes]
rs72984503	1.00[AMR][1000 genomes]
rs72984509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72984515	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72986505	1.00[AMR][1000 genomes]
rs72986535	1.00[AMR][1000 genomes]
rs9919308	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv432631	chr1:113071834-113200797	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
5	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
6	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113163600-113200000	Weak transcription	Fetal Kidney	kidney
2	chr1:113163800-113200200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:113163800-113200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:113164000-113190000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:113164200-113204200	Weak transcription	Fetal Brain Male	brain
6	chr1:113168800-113187200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:113168800-113189800	Weak transcription	Fetal Lung	lung
8	chr1:113168800-113191000	Weak transcription	Ovary	ovary
9	chr1:113168800-113199800	Weak transcription	Esophagus	oesophagus
10	chr1:113168800-113215800	Weak transcription	Fetal Heart	heart
11	chr1:113169000-113186400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:113169000-113189800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:113169200-113188400	Weak transcription	Left Ventricle	heart
14	chr1:113169800-113188800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:113172600-113191400	Weak transcription	Brain Germinal Matrix	brain
16	chr1:113173400-113186600	Weak transcription	Thymus	Thymus
17	chr1:113173400-113186800	Weak transcription	Fetal Stomach	stomach
18	chr1:113174400-113186000	Weak transcription	Fetal Thymus	thymus
19	chr1:113174400-113190000	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:113175200-113188800	Weak transcription	Gastric	stomach
21	chr1:113175200-113189800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:113175200-113199800	Weak transcription	Psoas Muscle	Psoas
23	chr1:113175200-113200000	Weak transcription	Right Atrium	heart
24	chr1:113176000-113199200	Weak transcription	Fetal Brain Female	brain
25	chr1:113178200-113191400	Weak transcription	Fetal Intestine Large	intestine
26	chr1:113178400-113186400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:113179000-113215600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:113179400-113191400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:113179600-113197400	Weak transcription	Colonic Mucosa	Colon
30	chr1:113179800-113186200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr1:113179800-113186400	Weak transcription	Fetal Intestine Small	intestine
32	chr1:113179800-113187400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:113179800-113189800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr1:113179800-113191400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:113180000-113191400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:113180000-113193800	Weak transcription	Stomach Mucosa	stomach
37	chr1:113180000-113216000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr1:113180200-113186800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:113180200-113187400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:113180200-113187600	Weak transcription	Small Intestine	intestine
41	chr1:113180200-113189800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:113180200-113190000	Weak transcription	Liver	Liver
43	chr1:113180200-113190000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:113180200-113190400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:113180200-113191600	Weak transcription	NHLF	lung
46	chr1:113180200-113199800	Weak transcription	Spleen	Spleen
47	chr1:113180200-113200800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr1:113180200-113203000	Weak transcription	Aorta	Aorta
49	chr1:113180400-113186000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:113180400-113187200	Weak transcription	HSMM	muscle

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