Variant report

Variant	rs59035619
Chromosome Location	chr1:185256708-185256709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185256584..185258275-chr1:185263468..185265157,2	K562	blood:
2	chr1:185255885..185258419-chr1:185280171..185282266,2	K562	blood:
3	chr1:185256179..185258931-chr1:185354398..185356774,2	K562	blood:
4	chr1:185256550..185258256-chr1:185284838..185287502,2	MCF-7	breast:
5	chr1:185255623..185257727-chr1:185264157..185265832,2	MCF-7	breast:
6	chr1:185256140..185258488-chr1:185259752..185262450,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116679	Chromatin interaction
ENSG00000273004	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10489582	1.00[EUR][1000 genomes]
rs10494582	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10798007	0.82[ASN][1000 genomes]
rs11804954	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12026308	1.00[EUR][1000 genomes]
rs12038977	1.00[EUR][1000 genomes]
rs12240005	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16823862	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16823869	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823875	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823884	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823891	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2025228	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3766713	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766716	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3895195	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41377350	1.00[EUR][1000 genomes]
rs57927210	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57960155	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58031282	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58292874	1.00[ASN][1000 genomes]
rs58685423	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59227355	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59611551	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59818790	1.00[EUR][1000 genomes]
rs60064915	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61537994	1.00[EUR][1000 genomes]
rs61573899	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6672580	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6679946	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687946	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6698620	1.00[EUR][1000 genomes]
rs7515757	0.96[ASN][1000 genomes]
rs7516303	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7540216	1.00[EUR][1000 genomes]
rs7555243	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs953701	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs953702	1.00[EUR][1000 genomes];0.96[ASN][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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS 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	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185193800-185263600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:185218800-185269400	Weak transcription	Pancreas	Pancrea
3	chr1:185227800-185262000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:185231000-185263400	Weak transcription	Fetal Kidney	kidney
5	chr1:185235000-185261800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:185235200-185256800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:185235400-185265400	Weak transcription	Brain Substantia Nigra	brain
8	chr1:185236600-185265600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:185239600-185262000	Weak transcription	HSMMtube	muscle
10	chr1:185239800-185262000	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:185239800-185263800	Weak transcription	Brain Anterior Caudate	brain
12	chr1:185240000-185265800	Weak transcription	Fetal Lung	lung
13	chr1:185240200-185267200	Weak transcription	Gastric	stomach
14	chr1:185240400-185268800	Weak transcription	Aorta	Aorta
15	chr1:185240800-185273000	Weak transcription	Spleen	Spleen
16	chr1:185241600-185261800	Weak transcription	Fetal Brain Female	brain
17	chr1:185242000-185262000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:185244000-185261400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:185244800-185264800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:185245400-185268800	Weak transcription	Esophagus	oesophagus
21	chr1:185245600-185261000	Weak transcription	Fetal Intestine Large	intestine
22	chr1:185245800-185261600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:185245800-185268400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:185245800-185273000	Weak transcription	Right Ventricle	heart
25	chr1:185246200-185261600	Weak transcription	Lung	lung
26	chr1:185246800-185265600	Weak transcription	NHLF	lung
27	chr1:185247600-185267800	Weak transcription	Fetal Stomach	stomach
28	chr1:185248000-185260800	Weak transcription	Primary B cells from cord blood	blood
29	chr1:185248000-185261800	Weak transcription	Brain Angular Gyrus	brain
30	chr1:185248200-185266800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:185248800-185265200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:185249000-185263400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:185249200-185262600	Weak transcription	Osteobl	bone
34	chr1:185249200-185263000	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:185249200-185265800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:185250200-185260200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:185250200-185264000	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:185250200-185265400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:185250400-185265600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:185250600-185263000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:185250600-185263800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:185250800-185258600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:185250800-185259800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:185250800-185261800	Weak transcription	Right Atrium	heart
45	chr1:185251200-185256800	Weak transcription	Adipose Nuclei	Adipose
46	chr1:185251200-185263200	Weak transcription	Liver	Liver
47	chr1:185251200-185263200	Weak transcription	Dnd41	blood
48	chr1:185251200-185263600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:185251200-185263600	Weak transcription	A549	lung
50	chr1:185251200-185264400	Weak transcription	Fetal Muscle Trunk	muscle

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