Variant report

Variant	rs11954065
Chromosome Location	chr5:74060325-74060326
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:74060291-74060341	Caco-2	colon:	n/a
2	chr5:74060291-74060341	SAEC	small airway:	n/a
3	chr5:74060291-74060341	HEEpiC	esophagus:	n/a
4	chr5:74060291-74060341	HCT-116	colon:	n/a
5	chr5:74060291-74060341	HEK293	kidney:	embryo
6	chr5:74060291-74060341	HRE	kidney:	n/a
7	chr5:74060291-74060341	ovcar-3	ovarian:	n/a
8	chr5:74060291-74060341	AG04450	lung:	fetal
9	chr5:74060291-74060341	HepG2	liver:	n/a
10	chr5:74060291-74060341	SK-N-SH	brain:	n/a
11	chr5:74060291-74060341	SK-N-MC	brain:	n/a
12	chr5:74060291-74060341	LNCaP	prostate:	n/a
13	chr5:74060291-74060341	AG04449	skin:	fetal
14	chr5:74060291-74060341	NH-A	brain:	n/a
15	chr5:74060291-74060341	NHBE	bronchial:	n/a
16	chr5:74060291-74060341	HRCEpiC	kidney:	n/a
17	chr5:74060291-74060341	GM06990	blood:	n/a
18	chr5:74060291-74060341	BJ	skin:	n/a
19	chr5:74060291-74060341	AoSMC	blood vessel:	n/a
20	chr5:74060291-74060341	NHDF-neo	bronchial:	n/a
21	chr5:74060291-74060341	MCF-7	breast:	n/a
22	chr5:74060291-74060341	MCF10A-Er-Src	breast:	n/a
23	chr5:74060291-74060341	HCPEpiC	choroid plexus:	n/a
24	chr5:74060291-74060341	SK-N-SH_RA	brain:	n/a
25	chr5:74060291-74060341	A549	lung:	n/a
26	chr5:74060291-74060341	AG10803	skin:	n/a
27	chr5:74060291-74060341	T-47D	breast:	n/a
28	chr5:74060291-74060341	GM19239	blood:	n/a
29	chr5:74060291-74060341	Hepatocyte	liver:	n/a
30	chr5:74060291-74060341	SKMC	muscle:	n/a
31	chr5:74060291-74060341	PrEC	prostate:	n/a
32	chr5:74060291-74060341	HPAEpiC	pulmonary alveolar:	n/a
33	chr5:74060291-74060341	HUVEC	blood vessel:	n/a
34	chr5:74060291-74060341	ECC-1	luminal epithelium:	n/a
35	chr5:74060291-74060341	HMEC	breast:	n/a
36	chr5:74060291-74060341	GM12891	blood:	n/a
37	chr5:74060291-74060341	CMK	blood:	n/a
38	chr5:74060291-74060341	HCM	heart:	n/a
39	chr5:74060291-74060341	HAEpiC	amniotic membrane:	n/a
40	chr5:74060291-74060341	GM12878	blood:	n/a
41	chr5:74060291-74060341	RPTEC	kidney:	n/a
42	chr5:74060291-74060341	HNPCEpiC	eye:	n/a
43	chr5:74060291-74060341	PANC-1	pancreas:	n/a
44	chr5:74060291-74060341	U87	brain:	n/a
45	chr5:74060291-74060341	HRPEpiC	eye:	n/a
46	chr5:74060291-74060341	IMR90	lung:	fetal
47	chr5:74060291-74060341	HL-60	blood:	n/a
48	chr5:74060291-74060341	K562	blood:	n/a
49	chr5:74060291-74060341	BE2_C	brain:	n/a
50	chr5:74060291-74060341	AG09309	skin:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74058294..74061098-chr5:74061736..74064363,2	K562	blood:

No data

Variant related genes	Relation type
NSA2	CpG island
ENSG00000164346	Chromatin interaction
ENSG00000164347	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11950373	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11950502	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11951326	1.00[AMR][1000 genomes]
rs11952038	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11952887	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11955669	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11956317	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11957259	1.00[AMR][1000 genomes]
rs11960152	1.00[AMR][1000 genomes]
rs11960413	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1447452	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16872289	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16872292	1.00[AMR][1000 genomes]
rs16872305	1.00[AMR][1000 genomes]
rs16872321	1.00[AMR][1000 genomes]
rs1813646	1.00[AMR][1000 genomes]
rs35565659	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55828592	1.00[AMR][1000 genomes]
rs55941676	1.00[AMR][1000 genomes]
rs57371810	1.00[AMR][1000 genomes]
rs60089359	1.00[AMR][1000 genomes]
rs60574440	0.88[AFR][1000 genomes]
rs60746244	1.00[AMR][1000 genomes]
rs61373898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61589039	1.00[AMR][1000 genomes]
rs6870452	1.00[AMR][1000 genomes]
rs6870609	1.00[AMR][1000 genomes]
rs6871873	1.00[AMR][1000 genomes]
rs6885078	1.00[AMR][1000 genomes]
rs73762944	1.00[AMR][1000 genomes]
rs73762946	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73762947	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73762955	1.00[AMR][1000 genomes]
rs73762957	1.00[AMR][1000 genomes]
rs73762958	1.00[AMR][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	nsv598653	chr5:73992881-74095542	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers 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	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:73982000-74061800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:73999800-74060800	Weak transcription	Pancreas	Pancrea
3	chr5:73999800-74062200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:74002600-74061800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:74018000-74060800	Weak transcription	Gastric	stomach
6	chr5:74018600-74062000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:74021600-74060800	Weak transcription	Spleen	Spleen
8	chr5:74022000-74060800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:74025000-74062000	Weak transcription	Aorta	Aorta
10	chr5:74044400-74061000	Weak transcription	Fetal Heart	heart
11	chr5:74044400-74061000	Weak transcription	Right Ventricle	heart
12	chr5:74045200-74061800	Weak transcription	Esophagus	oesophagus
13	chr5:74047400-74061800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:74051400-74061200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:74052200-74060400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:74052800-74060800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:74052800-74061000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:74052800-74061000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:74052800-74061000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr5:74052800-74061200	Weak transcription	Brain Substantia Nigra	brain
21	chr5:74052800-74062000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:74053600-74060800	Weak transcription	Fetal Stomach	stomach
23	chr5:74053600-74061000	Weak transcription	Fetal Intestine Small	intestine
24	chr5:74054600-74060600	Weak transcription	Lung	lung
25	chr5:74054600-74060800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr5:74054600-74060800	Weak transcription	Colonic Mucosa	Colon
27	chr5:74054600-74060800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:74054800-74060600	Weak transcription	Left Ventricle	heart
29	chr5:74054800-74060600	Weak transcription	Ovary	ovary
30	chr5:74054800-74060600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:74054800-74060800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:74054800-74060800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr5:74054800-74060800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr5:74054800-74061000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:74054800-74061000	Weak transcription	Brain Anterior Caudate	brain
36	chr5:74054800-74061000	Weak transcription	Fetal Kidney	kidney
37	chr5:74054800-74061000	Weak transcription	Thymus	Thymus
38	chr5:74055200-74061600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr5:74056400-74061000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:74056600-74061200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:74056600-74061800	Enhancers	HMEC	breast
42	chr5:74057200-74061200	Weak transcription	NH-A	brain
43	chr5:74057600-74060600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr5:74057800-74061000	Weak transcription	Colon Smooth Muscle	Colon
45	chr5:74057800-74061000	Weak transcription	Fetal Brain Female	brain
46	chr5:74057800-74061000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr5:74058000-74061400	Weak transcription	Fetal Muscle Leg	muscle
48	chr5:74058200-74060800	Weak transcription	Brain Germinal Matrix	brain
49	chr5:74058200-74061200	Weak transcription	Psoas Muscle	Psoas
50	chr5:74058200-74061800	Enhancers	Muscle Satellite Cultured Cells	--

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