Variant report

Variant	rs55789720
Chromosome Location	chr10:22178821-22178822
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr10:22178747-22179199	GM12878	blood:	n/a	n/a
2	POLR2A	chr10:22177919-22179083	GM12891	blood:	n/a	n/a
3	ZNF143	chr10:22178703-22178898	GM12878	blood:	n/a	n/a
4	CHD2	chr10:22178666-22178943	GM12878	blood:	n/a	n/a
5	MTA3	chr10:22177547-22179088	GM12878	blood:	n/a	n/a
6	RUNX3	chr10:22178814-22179183	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:22171580..22173579-chr10:22177296..22179788,2	K562	blood:

Variant related genes	Relation type
ENSG00000203471	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs16921947	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16921976	1.00[ASN][1000 genomes]
rs41304605	0.89[EUR][1000 genomes]
rs55702118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55742770	0.89[EUR][1000 genomes]
rs55880968	0.89[EUR][1000 genomes]
rs56024469	1.00[EUR][1000 genomes]
rs56027722	0.87[EUR][1000 genomes]
rs56121502	1.00[EUR][1000 genomes]
rs56162327	0.87[EUR][1000 genomes]
rs56323200	0.87[EUR][1000 genomes]
rs56328322	1.00[EUR][1000 genomes]
rs58327563	0.87[ASN][1000 genomes]
rs61454417	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66617324	1.00[ASN][1000 genomes]
rs66867344	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66954116	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67009934	0.89[EUR][1000 genomes]
rs67106981	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67626393	1.00[EUR][1000 genomes]
rs72797462	0.89[EUR][1000 genomes]
rs72797470	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797476	0.89[EUR][1000 genomes]
rs72797490	1.00[EUR][1000 genomes]
rs72802931	0.89[EUR][1000 genomes]
rs72802956	0.89[EUR][1000 genomes]
rs72802957	1.00[EUR][1000 genomes]
rs72802961	1.00[EUR][1000 genomes]
rs72802964	1.00[EUR][1000 genomes]
rs72804392	0.87[EUR][1000 genomes]
rs72806318	0.87[EUR][1000 genomes]
rs72806334	0.89[EUR][1000 genomes]
rs72806949	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806951	1.00[ASN][1000 genomes]
rs72806995	0.89[EUR][1000 genomes]
rs72806996	0.89[EUR][1000 genomes]
rs72807000	0.89[EUR][1000 genomes]
rs72807001	0.89[EUR][1000 genomes]
rs72810732	1.00[EUR][1000 genomes]
rs72810741	1.00[EUR][1000 genomes]
rs72810756	1.00[EUR][1000 genomes]
rs72810759	1.00[EUR][1000 genomes]
rs72810761	1.00[EUR][1000 genomes]
rs72810769	1.00[EUR][1000 genomes]
rs72810771	0.87[EUR][1000 genomes]
rs72810772	0.87[EUR][1000 genomes]
rs72810773	0.87[EUR][1000 genomes]
rs72812739	0.87[EUR][1000 genomes]
rs7912711	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052464	chr10:21856531-22220087	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv1802317	chr10:21866085-22288132	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv1793816	chr10:22088054-22285371	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1048924	chr10:22177164-22296409	Enhancers Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22149600-22180200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:22153000-22200600	Weak transcription	Osteobl	bone
3	chr10:22160400-22195600	Weak transcription	NHEK	skin
4	chr10:22161400-22207600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr10:22162200-22201600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr10:22163000-22188000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr10:22163200-22182200	Weak transcription	Placenta	Placenta
8	chr10:22163400-22191200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr10:22164400-22184800	Weak transcription	Spleen	Spleen
10	chr10:22164400-22186400	Weak transcription	Esophagus	oesophagus
11	chr10:22164600-22188200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:22164800-22187800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:22167000-22182000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr10:22167200-22196600	Weak transcription	Small Intestine	intestine
15	chr10:22167600-22193400	Weak transcription	Brain Substantia Nigra	brain
16	chr10:22170400-22179400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr10:22170600-22183400	Weak transcription	K562	blood
18	chr10:22170600-22188000	Weak transcription	Ovary	ovary
19	chr10:22170600-22192200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:22170600-22200200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr10:22170800-22180200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:22170800-22181600	Weak transcription	Colon Smooth Muscle	Colon
23	chr10:22171200-22179000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr10:22171200-22179400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr10:22171200-22183200	Weak transcription	Left Ventricle	heart
26	chr10:22171200-22184800	Weak transcription	Right Ventricle	heart
27	chr10:22171200-22192400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr10:22171200-22197000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr10:22171400-22179400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr10:22172200-22179000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr10:22172400-22181800	Weak transcription	Fetal Brain Male	brain
32	chr10:22173400-22190800	Weak transcription	Stomach Mucosa	stomach
33	chr10:22174600-22180400	Weak transcription	Liver	Liver
34	chr10:22175200-22180400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr10:22176000-22180400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr10:22176600-22179200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr10:22176800-22179200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr10:22176800-22180800	Enhancers	Primary T cells from cord blood	blood
39	chr10:22177200-22179000	Enhancers	Dnd41	blood
40	chr10:22177200-22181000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr10:22177400-22179000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr10:22177400-22179400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr10:22177400-22179400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr10:22177400-22179400	Weak transcription	Fetal Lung	lung
45	chr10:22177600-22179000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr10:22177600-22179000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr10:22177600-22179400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr10:22177600-22179600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr10:22177600-22179600	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr10:22177600-22179600	ZNF genes & repeats	Fetal Intestine Small	intestine

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