Variant report

Variant	rs34427409
Chromosome Location	chr4:15594776-15594777
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	chr4:15587802..15589843-chr4:15592356..15595160,2	K562	blood:
2	chr4:15587526..15589843-chr4:15593660..15596117,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1154577	0.84[ASN][1000 genomes]
rs13106528	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13114491	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13122812	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13127507	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13131119	0.84[ASN][1000 genomes]
rs13131285	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13131606	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13138894	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13141724	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13144428	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468735	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468736	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892143	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892156	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17476670	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17476831	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041672	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041673	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3182730	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34155734	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34599140	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34831330	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34924677	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35151159	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35196224	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35258636	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35309200	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35461787	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35724720	0.84[ASN][1000 genomes]
rs36012186	0.84[ASN][1000 genomes]
rs4267734	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4326008	1.00[ASN][1000 genomes]
rs4613560	1.00[ASN][1000 genomes]
rs57275698	0.84[ASN][1000 genomes]
rs6449150	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66472670	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67047740	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67089836	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67222859	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67224550	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6825051	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6825815	0.84[ASN][1000 genomes]
rs6834359	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237149	0.84[ASN][1000 genomes]
rs73237151	0.84[ASN][1000 genomes]
rs7699180	0.94[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	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15537400-15621000	Weak transcription	Hela-S3	cervix
2	chr4:15550000-15617800	Weak transcription	Thymus	Thymus
3	chr4:15554600-15601400	Weak transcription	A549	lung
4	chr4:15556000-15603200	Weak transcription	Fetal Thymus	thymus
5	chr4:15564000-15600600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:15564400-15603200	Weak transcription	HMEC	breast
7	chr4:15564600-15603600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:15565400-15612600	Weak transcription	Brain Substantia Nigra	brain
9	chr4:15565400-15621400	Weak transcription	Esophagus	oesophagus
10	chr4:15565600-15604200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:15565600-15611400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:15565800-15605000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:15566200-15596800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:15568400-15655600	Weak transcription	Gastric	stomach
15	chr4:15569600-15596400	Weak transcription	NHDF-Ad	bronchial
16	chr4:15569600-15603600	Weak transcription	Spleen	Spleen
17	chr4:15569600-15604200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:15570200-15601800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:15570600-15602000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:15570600-15602000	Weak transcription	Pancreas	Pancrea
21	chr4:15571000-15597200	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:15571400-15596000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr4:15572200-15595600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:15572200-15601200	Weak transcription	NHLF	lung
25	chr4:15572200-15601800	Weak transcription	Brain Angular Gyrus	brain
26	chr4:15572200-15601800	Weak transcription	NHEK	skin
27	chr4:15572200-15604000	Weak transcription	Primary T cells from cord blood	blood
28	chr4:15572200-15604200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr4:15572400-15596200	Weak transcription	Ovary	ovary
30	chr4:15573200-15603800	Weak transcription	Fetal Intestine Small	intestine
31	chr4:15575200-15618000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:15577800-15599000	Weak transcription	Left Ventricle	heart
33	chr4:15577800-15602800	Weak transcription	Placenta	Placenta
34	chr4:15578000-15599000	Weak transcription	Aorta	Aorta
35	chr4:15579000-15599200	Weak transcription	Osteobl	bone
36	chr4:15579200-15598600	Weak transcription	Liver	Liver
37	chr4:15580400-15600000	Weak transcription	Colon Smooth Muscle	Colon
38	chr4:15583400-15596000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:15583400-15599200	Weak transcription	NH-A	brain
40	chr4:15583800-15596600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:15584400-15596400	Weak transcription	Fetal Kidney	kidney
42	chr4:15586400-15599000	Weak transcription	Brain Anterior Caudate	brain
43	chr4:15587200-15612600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:15588200-15601200	Weak transcription	Primary B cells from cord blood	blood
45	chr4:15589000-15600000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr4:15589200-15596000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:15589200-15602800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:15589600-15595800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr4:15589600-15602000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:15589600-15603000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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