Variant report

Variant	rs3010781
Chromosome Location	chr1:213169018-213169019
allele	A/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:213140835..213141998-chr1:213168527..213169421,4	K562	blood:
2	chr1:212236183..212236845-chr1:213168558..213169408,2	K562	blood:
3	chr1:213094275..213094943-chr1:213168534..213169492,4	MCF-7	breast:
4	chr1:212988079..212988704-chr1:213168950..213169514,2	K562	blood:
5	chr1:212631376..212634349-chr1:213167249..213169058,2	K562	blood:
6	chr1:212650231..212651131-chr1:213168597..213169449,2	K562	blood:
7	chr1:212872035..212873151-chr1:213168225..213169487,5	K562	blood:
8	chr1:212838217..212839188-chr1:213168531..213169145,5	K562	blood:
9	chr1:213051536..213053603-chr1:213168985..213171971,2	K562	blood:
10	chr1:212630808..212631798-chr1:213168552..213169259,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000237980	Chromatin interaction
ENSG00000123685	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2817975	1.00[AMR][1000 genomes]
rs2841432	1.00[AMR][1000 genomes]
rs2841437	1.00[AMR][1000 genomes]
rs2936009	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3010793	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7540597	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213151800-213169400	Weak transcription	Colonic Mucosa	Colon
2	chr1:213153400-213173000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:213153800-213170200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:213154400-213178200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:213154600-213170200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:213154600-213187400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:213154800-213177400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:213154800-213178200	Weak transcription	Brain Angular Gyrus	brain
9	chr1:213154800-213188000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:213154800-213188400	Weak transcription	Spleen	Spleen
11	chr1:213155200-213177800	Weak transcription	Right Ventricle	heart
12	chr1:213155400-213178400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:213155600-213169400	Weak transcription	Lung	lung
14	chr1:213155600-213178400	Weak transcription	Gastric	stomach
15	chr1:213155600-213188000	Weak transcription	Aorta	Aorta
16	chr1:213155600-213188000	Weak transcription	Esophagus	oesophagus
17	chr1:213156000-213176800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:213156000-213177200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:213156200-213187400	Weak transcription	Fetal Brain Male	brain
20	chr1:213156200-213188000	Weak transcription	Pancreas	Pancrea
21	chr1:213156400-213170000	Weak transcription	Brain Anterior Caudate	brain
22	chr1:213156600-213170400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:213156600-213176600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:213157200-213178400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:213158400-213188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:213158800-213169200	Weak transcription	Fetal Stomach	stomach
27	chr1:213160200-213188000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:213160400-213173000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:213160400-213187200	Weak transcription	NHLF	lung
30	chr1:213160600-213169400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:213161000-213171600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:213161800-213169600	Weak transcription	Ovary	ovary
33	chr1:213161800-213170000	Weak transcription	HUVEC	blood vessel
34	chr1:213161800-213171600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr1:213162000-213184600	Weak transcription	Psoas Muscle	Psoas
36	chr1:213162200-213188000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:213162800-213181200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:213162800-213183000	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr1:213163200-213187400	Weak transcription	Stomach Mucosa	stomach
40	chr1:213163400-213170200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:213163400-213173000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:213164000-213169600	Weak transcription	Small Intestine	intestine
43	chr1:213164200-213172400	Weak transcription	Fetal Brain Female	brain
44	chr1:213164800-213169200	Strong transcription	Dnd41	blood
45	chr1:213164800-213170600	Strong transcription	Fetal Thymus	thymus
46	chr1:213164800-213173800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:213165000-213171200	Strong transcription	Placenta	Placenta
48	chr1:213165200-213170800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:213165200-213171200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:213165200-213171400	Strong transcription	Primary B cells from peripheral blood	blood

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