Variant report

Variant	rs61823885
Chromosome Location	chr1:184693177-184693178
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:184687987..184690948-chr1:184692371..184695173,3	K562	blood:
2	chr1:184691316..184693435-chr1:184696792..184698671,2	K562	blood:
3	chr1:184684929..184687575-chr1:184691047..184693770,2	K562	blood:
4	chr1:184692283..184693990-chr1:184704527..184706346,2	K562	blood:
5	chr1:184687867..184690558-chr1:184692162..184694552,2	MCF-7	breast:
6	chr1:184684929..184687575-chr1:184691047..184694725,3	K562	blood:
7	chr1:184692034..184695028-chr1:184695067..184697135,2	K562	blood:
8	chr1:184691631..184695143-chr1:184721197..184724514,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000116406	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10489697	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10797985	0.91[EUR][1000 genomes]
rs10911628	0.91[EUR][1000 genomes]
rs10911637	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12060621	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12067111	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12079454	1.00[ASN][1000 genomes]
rs12094196	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12096214	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16823413	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823421	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823429	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2224092	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35779894	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41535944	0.86[AFR][1000 genomes]
rs55760657	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55896922	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56384325	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56741490	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58465130	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59085958	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59347366	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59634722	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59862212	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61022402	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823870	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61823871	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61823873	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61823876	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61823879	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61823880	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823882	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823891	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823908	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6681178	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1010371	chr1:184663898-184709570	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1009529	chr1:184663898-184731215	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1001244	chr1:184667198-184715195	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1849889	chr1:184667371-184718601	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv872584	chr1:184678290-184716457	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184653200-184705000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:184654000-184710800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:184654200-184701200	Weak transcription	Stomach Mucosa	stomach
4	chr1:184654200-184710000	Weak transcription	Esophagus	oesophagus
5	chr1:184658400-184706800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:184659200-184707000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:184660000-184704200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:184661000-184705600	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr1:184661200-184707800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:184661600-184693200	Strong transcription	Dnd41	blood
11	chr1:184662000-184698000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:184662200-184706600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:184662600-184699400	Weak transcription	Psoas Muscle	Psoas
14	chr1:184665200-184706800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:184665600-184700400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:184666200-184704600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:184668400-184707000	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr1:184669200-184707000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:184669400-184707000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:184671200-184707400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:184673200-184694600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:184673200-184699400	Weak transcription	Gastric	stomach
23	chr1:184673200-184702800	Weak transcription	Spleen	Spleen
24	chr1:184674600-184723000	Weak transcription	Aorta	Aorta
25	chr1:184674800-184702200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr1:184677400-184702800	Weak transcription	Pancreas	Pancrea
27	chr1:184677600-184723200	Weak transcription	Lung	lung
28	chr1:184678800-184710800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:184680200-184695000	Weak transcription	Hela-S3	cervix
30	chr1:184681400-184695800	Weak transcription	Fetal Stomach	stomach
31	chr1:184681400-184704800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:184685000-184701400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:184685000-184701800	Weak transcription	A549	lung
34	chr1:184685000-184721800	Weak transcription	Fetal Heart	heart
35	chr1:184685400-184696000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:184685400-184722800	Weak transcription	Ovary	ovary
37	chr1:184685600-184694000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:184685600-184700600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:184685600-184701600	Weak transcription	Brain Angular Gyrus	brain
40	chr1:184685600-184703600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:184685600-184706000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr1:184685600-184711200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr1:184685600-184714400	Weak transcription	Brain Substantia Nigra	brain
44	chr1:184685600-184721000	Weak transcription	Right Ventricle	heart
45	chr1:184685600-184722600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:184685800-184693400	Weak transcription	HMEC	breast
47	chr1:184685800-184698000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:184685800-184707000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:184685800-184715000	Weak transcription	Small Intestine	intestine
50	chr1:184686000-184703000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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