Variant report

Variant	rs11729778
Chromosome Location	chr4:174249588-174249589
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:174248835..174250449-chr4:174326947..174329292,2	K562	blood:
2	chr4:174245727..174260507-chr4:174283013..174295498,65	K562	blood:
3	chr4:174249343..174251576-chr4:174340147..174342867,2	MCF-7	breast:
4	chr4:174248778..174262653-chr4:174278408..174298501,82	K562	blood:

Variant related genes	Relation type
ENSG00000272870	Chromatin interaction
ENSG00000164106	Chromatin interaction
ENSG00000242882	Chromatin interaction
ENSG00000164105	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11132982	0.89[ASN][1000 genomes]
rs11722602	0.86[EUR][1000 genomes]
rs11722807	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11724459	1.00[EUR][1000 genomes]
rs11726679	0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11728029	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11731057	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731262	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734517	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11736050	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1481120	0.98[ASN][1000 genomes]
rs34885736	1.00[EUR][1000 genomes]
rs3733476	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775590	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775591	0.86[ASN][1000 genomes]
rs4695829	0.82[ASN][1000 genomes]
rs56159092	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58185783	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58612091	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61470087	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6821844	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6842693	0.87[ASN][1000 genomes]
rs6853427	0.90[ASN][1000 genomes]
rs72999543	0.83[ASN][1000 genomes]
rs73001512	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73003342	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73003349	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73003362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73003376	0.98[ASN][1000 genomes]
rs73005346	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73005353	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73005356	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73005357	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73005363	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7664847	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7665469	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7668435	0.86[ASN][1000 genomes]
rs7672055	0.86[ASN][1000 genomes]
rs7686909	0.88[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	nsv4610	chr4:174217026-174252627	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv966552	chr4:174248506-174259305	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174210400-174253000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr4:174210400-174253000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:174210600-174253000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:174210800-174252000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:174215200-174249600	Weak transcription	Left Ventricle	heart
6	chr4:174215200-174254000	Weak transcription	Psoas Muscle	Psoas
7	chr4:174217600-174253000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:174222800-174253000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:174223400-174250600	Strong transcription	Dnd41	blood
10	chr4:174223400-174251600	Strong transcription	Fetal Thymus	thymus
11	chr4:174223600-174250400	Weak transcription	Hela-S3	cervix
12	chr4:174225200-174250800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:174229200-174251400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:174229200-174252400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:174229200-174253200	Weak transcription	Small Intestine	intestine
16	chr4:174231200-174254000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:174233600-174249600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:174235600-174253000	Weak transcription	Fetal Brain Female	brain
19	chr4:174235600-174253200	Weak transcription	Colonic Mucosa	Colon
20	chr4:174236000-174253800	Weak transcription	Right Ventricle	heart
21	chr4:174236400-174253200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:174236600-174250600	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:174237000-174250600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:174237400-174254200	Weak transcription	Ovary	ovary
25	chr4:174237600-174253200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr4:174237600-174254000	Weak transcription	Esophagus	oesophagus
27	chr4:174237600-174254400	Weak transcription	Pancreas	Pancrea
28	chr4:174237800-174253200	Weak transcription	Gastric	stomach
29	chr4:174238200-174253200	Weak transcription	Aorta	Aorta
30	chr4:174238400-174253000	Weak transcription	Fetal Intestine Small	intestine
31	chr4:174238400-174254400	Weak transcription	Lung	lung
32	chr4:174240000-174249600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:174240000-174251800	Weak transcription	Brain Germinal Matrix	brain
34	chr4:174240400-174250200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr4:174240400-174253800	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:174240600-174249600	Weak transcription	K562	blood
37	chr4:174240600-174251600	Weak transcription	Brain Anterior Caudate	brain
38	chr4:174240600-174251800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:174240600-174253200	Weak transcription	Stomach Mucosa	stomach
40	chr4:174240600-174253600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr4:174240800-174249600	Weak transcription	Fetal Heart	heart
42	chr4:174240800-174253400	Weak transcription	Brain Angular Gyrus	brain
43	chr4:174241000-174249600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr4:174241000-174250000	Weak transcription	NHDF-Ad	bronchial
45	chr4:174241000-174251400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr4:174241000-174253000	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:174241000-174253400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr4:174241200-174249600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr4:174241200-174253200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr4:174241200-174254000	Weak transcription	HSMMtube	muscle

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