Variant report

Variant	rs55920838
Chromosome Location	chr1:221888340-221888341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr1:221887943-221888343	K562	blood:	n/a	n/a
2	JUN	chr1:221888182-221888575	K562	blood:	n/a	n/a
3	POLR2A	chr1:221887662-221888342	K562	blood:	n/a	n/a
4	POLR2A	chr1:221887629-221888404	K562	blood:	n/a	n/a
5	SETDB1	chr1:221887891-221888357	U2OS	brain:	n/a	n/a
6	KAP1	chr1:221888329-221889283	HEK293	kidney:	n/a	n/a
7	ZC3H11A	chr1:221888107-221888872	K562	blood:	n/a	n/a
8	POLR2A	chr1:221885201-221889107	K562	blood:	n/a	n/a
9	ZNF384	chr1:221888031-221888379	K562	blood:	n/a	n/a
10	POLR2A	chr1:221888065-221888477	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:221887523..221889150-chr1:221891043..221892989,2	MCF-7	breast:
2	chr1:221886064..221888475-chr1:221888570..221891136,3	K562	blood:
3	chr1:221887650..221891571-chr1:221892438..221898117,9	K562	blood:
4	chr1:221882652..221891989-chr1:221912814..221917285,15	K562	blood:
5	chr1:221886657..221890286-chr1:221915663..221918002,3	MCF-7	breast:

No data

Variant related genes	Relation type
DUSP10	TF binding region
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10746413	0.99[ASN][1000 genomes]
rs908858	0.81[AMR][1000 genomes];0.94[ASN][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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221863800-221888600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:221875400-221889600	Weak transcription	Fetal Kidney	kidney
3	chr1:221877400-221889200	Weak transcription	Colonic Mucosa	Colon
4	chr1:221879600-221891000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:221879600-221891800	Enhancers	Fetal Thymus	thymus
6	chr1:221879600-221902400	Enhancers	Brain Substantia Nigra	brain
7	chr1:221879800-221889000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:221879800-221889600	Weak transcription	Esophagus	oesophagus
9	chr1:221879800-221890200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:221879800-221890200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:221879800-221896800	Enhancers	Colon Smooth Muscle	Colon
12	chr1:221880000-221889600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr1:221880200-221889200	Weak transcription	Right Atrium	heart
14	chr1:221880400-221893200	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:221881000-221888600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:221881800-221888600	Weak transcription	Placenta	Placenta
17	chr1:221882600-221893400	Enhancers	Brain Cingulate Gyrus	brain
18	chr1:221882800-221899000	Genic enhancers	HSMM	muscle
19	chr1:221883000-221888600	Weak transcription	Fetal Intestine Large	intestine
20	chr1:221883000-221888600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:221883000-221889600	Weak transcription	Right Ventricle	heart
22	chr1:221883400-221889600	Weak transcription	Left Ventricle	heart
23	chr1:221883800-221890000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:221884200-221889000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:221884600-221888800	Weak transcription	Brain Germinal Matrix	brain
26	chr1:221884600-221891600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:221884800-221896200	Enhancers	Rectal Smooth Muscle	rectum
28	chr1:221885200-221888800	Weak transcription	Fetal Brain Female	brain
29	chr1:221885400-221888600	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:221885800-221892200	Enhancers	NHDF-Ad	bronchial
31	chr1:221886000-221888600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:221886000-221895200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:221886200-221896000	Weak transcription	NHEK	skin
34	chr1:221886400-221888400	Weak transcription	Stomach Mucosa	stomach
35	chr1:221886600-221888400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:221886600-221888400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:221886600-221888600	Weak transcription	NHLF	lung
38	chr1:221886600-221888600	Weak transcription	Osteobl	bone
39	chr1:221886600-221889200	Weak transcription	Small Intestine	intestine
40	chr1:221886600-221889600	Weak transcription	Gastric	stomach
41	chr1:221886600-221889800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:221886600-221890600	Weak transcription	Adipose Nuclei	Adipose
43	chr1:221886600-221891600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:221886600-221891600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:221886600-221891600	Weak transcription	Spleen	Spleen
46	chr1:221886600-221896000	Weak transcription	Aorta	Aorta
47	chr1:221886600-221897000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:221886600-221897000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr1:221886600-221897000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:221886800-221888600	Enhancers	Primary T helper cells PMA-I stimulated	--

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