Variant report

Variant	rs3767732
Chromosome Location	chr1:224415509-224415510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224395391..224399325-chr1:224414771..224417344,4	K562	blood:
2	chr1:224410361..224412569-chr1:224413431..224415839,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEGS1-1	chr1:224415128-224415745	ENSG00000237101.1

Variant related genes	Relation type
ENSG00000232628	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10495222	0.87[CEU][hapmap];0.87[GIH][hapmap]
rs11579031	0.80[CEU][hapmap];1.00[AFR][1000 genomes]
rs12134258	0.87[CEU][hapmap];0.87[GIH][hapmap]
rs12135557	0.81[CHB][hapmap]
rs41303097	1.00[AFR][1000 genomes]
rs72755912	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72755941	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72755955	1.00[AFR][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	nsv873223	chr1:224367232-224467117	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224401800-224427600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:224401800-224475400	Weak transcription	Esophagus	oesophagus
3	chr1:224407600-224434000	Weak transcription	Fetal Brain Male	brain
4	chr1:224411400-224417400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:224411600-224438000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:224411600-224454400	Weak transcription	Psoas Muscle	Psoas
7	chr1:224412000-224433000	Weak transcription	Fetal Heart	heart
8	chr1:224412200-224423200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:224412200-224423400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:224412200-224424800	Weak transcription	Stomach Mucosa	stomach
11	chr1:224412400-224473600	Weak transcription	HepG2	liver
12	chr1:224412600-224417400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:224413200-224432600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:224413600-224416200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:224413600-224416400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:224413600-224417400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:224413800-224415600	Strong transcription	Primary B cells from cord blood	blood
18	chr1:224413800-224415600	Strong transcription	NH-A	brain
19	chr1:224413800-224416000	Strong transcription	HSMM	muscle
20	chr1:224413800-224416400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:224413800-224419600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:224413800-224428000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:224413800-224428200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr1:224414000-224416000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:224414000-224416200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:224414000-224432200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:224414200-224415600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:224414200-224415600	Strong transcription	Brain Substantia Nigra	brain
29	chr1:224414200-224415600	Strong transcription	Gastric	stomach
30	chr1:224414200-224415600	Strong transcription	A549	lung
31	chr1:224414200-224415800	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr1:224414200-224415800	Strong transcription	Brain Angular Gyrus	brain
33	chr1:224414200-224415800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr1:224414200-224415800	Strong transcription	Hela-S3	cervix
35	chr1:224414200-224415800	Strong transcription	NHLF	lung
36	chr1:224414200-224416000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:224414200-224416000	Strong transcription	Primary T cells from cord blood	blood
38	chr1:224414200-224416000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr1:224414200-224416000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:224414200-224416000	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr1:224414200-224416000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr1:224414200-224416000	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr1:224414200-224416000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr1:224414200-224416000	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:224414200-224416000	Strong transcription	GM12878-XiMat	blood
46	chr1:224414200-224416000	Strong transcription	NHDF-Ad	bronchial
47	chr1:224414200-224416200	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:224414200-224416200	Strong transcription	Left Ventricle	heart
49	chr1:224414200-224416200	Strong transcription	Rectal Smooth Muscle	rectum
50	chr1:224414200-224416400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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