Variant report

Variant	rs56299150
Chromosome Location	chr7:111959277-111959278
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111957865..111959684-chr7:111963076..111965574,2	K562	blood:
2	chr7:111921593..111923966-chr7:111958978..111961441,2	MCF-7	breast:
3	chr7:111957865..111960569-chr7:111963076..111967286,5	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10226284	0.86[ASN][1000 genomes]
rs10238141	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10247876	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10272126	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10272188	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10953708	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10953709	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953710	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953711	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11760599	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11761567	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761807	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11762497	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11763356	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11763588	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763768	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11768608	0.86[EUR][1000 genomes]
rs11768793	0.86[EUR][1000 genomes]
rs11768891	0.86[EUR][1000 genomes]
rs11769219	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11773393	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12666261	0.86[EUR][1000 genomes]
rs12666328	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12668065	0.85[EUR][1000 genomes]
rs12673830	0.86[EUR][1000 genomes]
rs13230061	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16873374	0.83[EUR][1000 genomes]
rs17159389	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17159446	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301725	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3823515	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41281063	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4730520	0.86[ASN][1000 genomes]
rs55662318	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55915049	0.86[EUR][1000 genomes]
rs56675883	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56969420	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60445595	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6949164	0.84[ASN][1000 genomes]
rs6955231	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6955623	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978927	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7795336	0.86[EUR][1000 genomes]
rs9641480	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
4	esv2764032	chr7:111938590-111963829	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv5902	chr7:111952128-111997265	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111913200-111965200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:111918000-111963000	Weak transcription	Aorta	Aorta
3	chr7:111921400-111961800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:111923600-111964600	Weak transcription	Esophagus	oesophagus
5	chr7:111923600-111964800	Weak transcription	Gastric	stomach
6	chr7:111926200-111979600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:111926600-111982200	Weak transcription	Right Ventricle	heart
8	chr7:111926800-111962000	Weak transcription	Fetal Brain Female	brain
9	chr7:111926800-111964800	Weak transcription	Lung	lung
10	chr7:111927200-111965000	Weak transcription	Brain Anterior Caudate	brain
11	chr7:111927400-111964800	Weak transcription	Fetal Stomach	stomach
12	chr7:111928600-111978000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:111928800-111961000	Weak transcription	Placenta	Placenta
14	chr7:111930200-111961800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:111930800-111965200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:111931000-111981000	Weak transcription	HSMMtube	muscle
17	chr7:111934000-111965200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:111936800-111959800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:111938000-111965000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:111939200-111961800	Weak transcription	Psoas Muscle	Psoas
21	chr7:111939200-111964600	Weak transcription	Left Ventricle	heart
22	chr7:111940000-111964800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:111941000-111963200	Weak transcription	Fetal Brain Male	brain
24	chr7:111941600-111960400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:111943000-111960400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:111943000-111960800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:111943000-111978600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr7:111943000-111985200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:111945200-111965000	Weak transcription	Pancreas	Pancrea
30	chr7:111945200-111986800	Weak transcription	Hela-S3	cervix
31	chr7:111947400-111981000	Weak transcription	Brain Angular Gyrus	brain
32	chr7:111947800-111960600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:111949200-111959400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:111950000-111961800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:111950000-111961800	Weak transcription	Ovary	ovary
36	chr7:111950000-111961800	Weak transcription	HepG2	liver
37	chr7:111950000-111962200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:111950200-111961400	Weak transcription	A549	lung
39	chr7:111950200-111961400	Weak transcription	NHEK	skin
40	chr7:111950200-111961800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:111950200-111961800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:111950200-111961800	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:111950200-111962000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:111950200-111962000	Weak transcription	HMEC	breast
45	chr7:111950200-111963000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:111950200-111965000	Weak transcription	GM12878-XiMat	blood
47	chr7:111950200-111967400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr7:111950400-111962000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr7:111950400-111963000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:111950400-111965200	Weak transcription	Fetal Intestine Small	intestine

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