Variant report

Variant	rs35213802
Chromosome Location	chr1:227087478-227087479
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227071996..227075968-chr1:227085768..227088327,4	K562	blood:

Variant related genes	Relation type
ENSG00000143801	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10799367	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10916057	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10916059	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11580744	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11588886	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12119853	0.85[EUR][1000 genomes]
rs12123818	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125811	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12127440	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12130732	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138310	0.80[EUR][1000 genomes]
rs12143886	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12403248	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12405779	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12733650	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12747261	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12760155	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16846644	0.97[EUR][1000 genomes]
rs1800672	0.95[EUR][1000 genomes]
rs1800673	0.95[EUR][1000 genomes]
rs1800681	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2236912	0.92[EUR][1000 genomes]
rs3213436	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34081886	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35029375	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35396772	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35519961	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35744376	0.83[EUR][1000 genomes]
rs3820649	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3829979	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426554	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6676065	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6676067	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680780	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71648404	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732479	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7512804	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 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	chr1:227059800-227095000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:227069400-227087800	Weak transcription	HMEC	breast
3	chr1:227069400-227102800	Weak transcription	K562	blood
4	chr1:227070800-227088200	Weak transcription	Fetal Brain Male	brain
5	chr1:227071000-227089000	Strong transcription	Stomach Smooth Muscle	stomach
6	chr1:227071200-227088400	Weak transcription	Hela-S3	cervix
7	chr1:227071200-227091400	Weak transcription	Osteobl	bone
8	chr1:227071800-227102400	Weak transcription	Small Intestine	intestine
9	chr1:227072200-227091800	Weak transcription	Fetal Kidney	kidney
10	chr1:227072200-227100400	Weak transcription	Stomach Mucosa	stomach
11	chr1:227073400-227088600	Strong transcription	Fetal Stomach	stomach
12	chr1:227073400-227092200	Strong transcription	Pancreas	Pancrea
13	chr1:227073800-227100600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:227074200-227091800	Weak transcription	Fetal Heart	heart
15	chr1:227074800-227090000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:227074800-227090200	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:227075000-227088800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:227075200-227091800	Weak transcription	Right Atrium	heart
19	chr1:227075400-227088800	Strong transcription	Liver	Liver
20	chr1:227075600-227088200	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr1:227078600-227091600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:227079800-227097200	Weak transcription	Brain Germinal Matrix	brain
23	chr1:227080000-227094800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:227080200-227090600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:227080400-227088200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:227080400-227090000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:227080600-227088400	Strong transcription	Left Ventricle	heart
28	chr1:227080600-227088800	Strong transcription	Adipose Nuclei	Adipose
29	chr1:227080600-227089000	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:227080600-227089800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr1:227080800-227093600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:227081000-227088800	Strong transcription	Fetal Muscle Leg	muscle
33	chr1:227081800-227089200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:227082400-227091000	Weak transcription	NHLF	lung
35	chr1:227082600-227089000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:227082800-227089000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:227082800-227110600	Weak transcription	Fetal Brain Female	brain
38	chr1:227083000-227089800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:227083000-227092000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:227083200-227091400	Weak transcription	Colonic Mucosa	Colon
41	chr1:227083200-227099400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:227083200-227126600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:227083400-227087800	Weak transcription	Esophagus	oesophagus
44	chr1:227083400-227090200	Weak transcription	NHEK	skin
45	chr1:227083800-227097200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:227083800-227097400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:227084000-227093400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:227084200-227088000	Weak transcription	Brain Substantia Nigra	brain
49	chr1:227084200-227091400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:227084800-227096800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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