Variant report

Variant	rs61823908
Chromosome Location	chr1:184711212-184711213
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:184711120-184711270	HPAF	blood vessel:	n/a	n/a
2	CTCF	chr1:184711080-184711230	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:184709738..184712321-chr1:184713250..184716697,3	K562	blood:
2	chr1:184703854..184706366-chr1:184709752..184714206,4	K562	blood:
3	chr1:184708169..184713415-chr1:184713456..184716461,4	MCF-7	breast:
4	chr1:184708973..184712904-chr1:184713895..184716754,5	K562	blood:

No data

Variant related genes	Relation type
EDEM3	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10489697	0.85[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	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12060621	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12067111	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12079454	1.00[ASN][1000 genomes]
rs12094196	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12096214	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16823413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2224092	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35779894	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41535944	0.88[AFR][1000 genomes]
rs55760657	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55896922	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56384325	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56741490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58465130	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59085958	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59347366	0.82[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61022402	0.97[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	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61823880	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823882	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823885	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823891	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6681178	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
7	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
8	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
9	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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184674600-184723000	Weak transcription	Aorta	Aorta
2	chr1:184677600-184723200	Weak transcription	Lung	lung
3	chr1:184685000-184721800	Weak transcription	Fetal Heart	heart
4	chr1:184685400-184722800	Weak transcription	Ovary	ovary
5	chr1:184685600-184714400	Weak transcription	Brain Substantia Nigra	brain
6	chr1:184685600-184721000	Weak transcription	Right Ventricle	heart
7	chr1:184685600-184722600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:184685800-184715000	Weak transcription	Small Intestine	intestine
9	chr1:184686200-184722600	Weak transcription	Brain Germinal Matrix	brain
10	chr1:184686400-184715600	Weak transcription	Colonic Mucosa	Colon
11	chr1:184688800-184714200	Weak transcription	Fetal Brain Male	brain
12	chr1:184690400-184721800	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:184695200-184715400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:184695400-184714800	Weak transcription	HepG2	liver
15	chr1:184698200-184722800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:184698400-184715000	Weak transcription	Fetal Lung	lung
17	chr1:184699400-184715200	Weak transcription	HUVEC	blood vessel
18	chr1:184699800-184711600	Weak transcription	Gastric	stomach
19	chr1:184699800-184711600	Weak transcription	Thymus	Thymus
20	chr1:184699800-184722200	Weak transcription	Fetal Stomach	stomach
21	chr1:184700000-184711600	Weak transcription	Psoas Muscle	Psoas
22	chr1:184701000-184714400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:184701600-184721800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:184701800-184715000	Weak transcription	Brain Anterior Caudate	brain
25	chr1:184702000-184712000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:184702200-184712000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:184702200-184714800	Weak transcription	Brain Angular Gyrus	brain
28	chr1:184702200-184721800	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:184702200-184721800	Weak transcription	NH-A	brain
30	chr1:184702200-184722200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:184702600-184712200	Weak transcription	HMEC	breast
32	chr1:184702600-184712600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:184702600-184715000	Weak transcription	Primary B cells from cord blood	blood
34	chr1:184703000-184715400	Weak transcription	HSMMtube	muscle
35	chr1:184703200-184721800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:184703200-184722800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:184703400-184714200	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:184703400-184721400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:184703600-184715000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:184703600-184715200	Weak transcription	Fetal Intestine Small	intestine
41	chr1:184703600-184720800	Weak transcription	Pancreas	Pancrea
42	chr1:184704400-184714800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:184704600-184721800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:184705000-184715400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:184705000-184715600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr1:184705000-184716800	Weak transcription	Left Ventricle	heart
47	chr1:184705000-184721800	Weak transcription	NHEK	skin
48	chr1:184705600-184714800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:184706000-184712200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:184706000-184715200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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