Variant report

Variant	rs4423794
Chromosome Location	chr3:150175996-150175997
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150120348..150122369-chr3:150175788..150177306,2	K562	blood:
2	chr3:150160697..150162930-chr3:150175362..150178307,2	MCF-7	breast:
3	chr3:150159940..150161859-chr3:150175049..150176964,2	K562	blood:
4	chr3:150125422..150129437-chr3:150175835..150179595,4	K562	blood:
5	chr3:150124105..150129008-chr3:150174357..150179992,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196428	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10513374	1.00[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MKK][hapmap];0.89[TSI][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10935800	0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11711035	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11719977	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12638309	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12639090	0.85[ASW][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13069723	0.87[AFR][1000 genomes]
rs13081231	0.94[ASN][1000 genomes]
rs13099758	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13321876	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1450344	0.81[JPT][hapmap]
rs16862627	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs16862644	0.86[JPT][hapmap]
rs16862676	0.85[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1868672	0.81[CHD][hapmap];0.90[JPT][hapmap]
rs1868673	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs28517277	0.86[AFR][1000 genomes]
rs2868425	0.81[JPT][hapmap]
rs4681203	0.94[ASN][1000 genomes]
rs4681205	0.80[CHB][hapmap];0.91[JPT][hapmap]
rs4681206	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4681618	1.00[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.85[MKK][hapmap];0.87[TSI][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58628422	0.94[ASN][1000 genomes]
rs61483057	0.81[ASN][1000 genomes]
rs62269065	0.91[AFR][1000 genomes]
rs67319423	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6762432	0.91[JPT][hapmap]
rs6770424	0.81[CHD][hapmap];0.91[JPT][hapmap]
rs6784048	0.94[ASN][1000 genomes]
rs6792734	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6792759	0.81[JPT][hapmap]
rs6795124	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6810143	0.80[CHD][hapmap];0.91[JPT][hapmap]
rs7651989	0.91[JPT][hapmap]
rs879634	0.81[AFR][1000 genomes]
rs9289810	0.91[JPT][hapmap]
rs9784335	0.90[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9826729	0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9865031	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9882777	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][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	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150137200-150176200	Weak transcription	HepG2	liver
2	chr3:150140000-150176200	Weak transcription	Fetal Stomach	stomach
3	chr3:150144200-150179000	Weak transcription	Aorta	Aorta
4	chr3:150149600-150176000	Weak transcription	Fetal Brain Female	brain
5	chr3:150153600-150178200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:150153800-150176000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:150154200-150176000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:150158600-150178200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr3:150159800-150176200	Weak transcription	Spleen	Spleen
10	chr3:150160600-150176200	Weak transcription	Esophagus	oesophagus
11	chr3:150160600-150178000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:150160800-150176200	Weak transcription	Fetal Kidney	kidney
13	chr3:150160800-150176200	Weak transcription	Gastric	stomach
14	chr3:150165400-150176200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:150165600-150176800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:150165600-150178800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:150165600-150187200	Weak transcription	Small Intestine	intestine
18	chr3:150165800-150176200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr3:150166000-150186200	Weak transcription	Brain Germinal Matrix	brain
20	chr3:150166400-150185600	Weak transcription	Lung	lung
21	chr3:150167200-150176200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:150167400-150176400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr3:150168800-150176200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr3:150169000-150176200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr3:150169000-150176200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:150169400-150176200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr3:150169400-150178400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr3:150169400-150178800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:150169600-150176200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:150169600-150176200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:150169800-150176400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr3:150170200-150176200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr3:150170200-150176200	Weak transcription	Ovary	ovary
34	chr3:150171800-150176200	Weak transcription	Brain Anterior Caudate	brain
35	chr3:150172000-150184800	Weak transcription	Brain Substantia Nigra	brain
36	chr3:150172200-150176000	Weak transcription	HUVEC	blood vessel
37	chr3:150172200-150176200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:150172200-150179800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:150172400-150176000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr3:150172400-150176000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr3:150172400-150176200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr3:150172400-150179000	Weak transcription	Psoas Muscle	Psoas
43	chr3:150172600-150176400	Weak transcription	Colon Smooth Muscle	Colon
44	chr3:150172600-150176400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:150172600-150191600	Weak transcription	Brain Angular Gyrus	brain
46	chr3:150173400-150176000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr3:150173400-150176200	Weak transcription	Brain Hippocampus Middle	brain
48	chr3:150173400-150176400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr3:150173400-150178600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr3:150173400-150181000	Weak transcription	Fetal Heart	heart

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