Variant report

Variant	rs73011380
Chromosome Location	chr1:150244046-150244047
allele	A/G
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:3)
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	chr1:150244045-150244095	A549	lung:	n/a
2	chr1:150244045-150244095	HEEpiC	esophagus:	n/a
3	chr1:150244045-150244095	Caco-2	colon:	n/a
4	chr1:150244045-150244095	HAEpiC	amniotic membrane:	n/a
5	chr1:150244045-150244095	ECC-1	luminal epithelium:	n/a
6	chr1:150244045-150244095	ProgFib	skin:	n/a
7	chr1:150244045-150244095	AoSMC	blood vessel:	n/a
8	chr1:150244045-150244095	HRE	kidney:	n/a
9	chr1:150244045-150244095	H1-hESC	embryonic stem cell:	embryo
10	chr1:150244045-150244095	IMR90	lung:	fetal
11	chr1:150244045-150244095	NHBE	bronchial:	n/a
12	chr1:150244045-150244095	AG04449	skin:	fetal
13	chr1:150244045-150244095	CMK	blood:	n/a
14	chr1:150244045-150244095	PANC-1	pancreas:	n/a
15	chr1:150244045-150244095	HIPEpiC	eye:	n/a
16	chr1:150244045-150244095	HPAEpiC	pulmonary alveolar:	n/a
17	chr1:150244045-150244095	PrEC	prostate:	n/a
18	chr1:150244045-150244095	AG04450	lung:	fetal
19	chr1:150244045-150244095	GM06990	blood:	n/a
20	chr1:150244045-150244095	NH-A	brain:	n/a
21	chr1:150244045-150244095	SAEC	small airway:	n/a
22	chr1:150244045-150244095	GM12878	blood:	n/a
23	chr1:150244045-150244095	GM12891	blood:	n/a
24	chr1:150244045-150244095	NT2-D1	testis:	n/a
25	chr1:150244045-150244095	HCT-116	colon:	n/a
26	chr1:150244045-150244095	MCF-7	breast:	n/a
27	chr1:150244045-150244095	LNCaP	prostate:	n/a
28	chr1:150244045-150244095	ovcar-3	ovarian:	n/a
29	chr1:150244045-150244095	AG10803	skin:	n/a
30	chr1:150244045-150244095	HUVEC	blood vessel:	n/a
31	chr1:150244045-150244095	Hela-S3	cervix:	n/a
32	chr1:150244045-150244095	GM12892	blood:	n/a
33	chr1:150244045-150244095	HRCEpiC	kidney:	n/a
34	chr1:150244045-150244095	HCF	heart:	n/a
35	chr1:150244045-150244095	Hepatocyte	liver:	n/a
36	chr1:150244045-150244095	U87	brain:	n/a
37	chr1:150244045-150244095	K562	blood:	n/a
38	chr1:150244045-150244095	T-47D	breast:	n/a
39	chr1:150244045-150244095	HRPEpiC	eye:	n/a
40	chr1:150244045-150244095	PFSK-1	brain:	n/a
41	chr1:150244045-150244095	HNPCEpiC	eye:	n/a
42	chr1:150244045-150244095	HepG2	liver:	n/a
43	chr1:150244045-150244095	MCF10A-Er-Src	breast:	n/a
44	chr1:150244045-150244095	BE2_C	brain:	n/a
45	chr1:150244045-150244095	AG09309	skin:	n/a
46	chr1:150244045-150244095	RPTEC	kidney:	n/a
47	chr1:150244045-150244095	HCPEpiC	choroid plexus:	n/a
48	chr1:150244045-150244095	HMEC	breast:	n/a
49	chr1:150244045-150244095	AG09319	gingival:	n/a
50	chr1:150244045-150244095	GM19239	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150242338..150244082-chr1:150255544..150257361,2	K562	blood:
2	chr1:150242514..150245022-chr1:150266520..150269823,3	K562	blood:
3	chr1:150228680..150231125-chr1:150243640..150246471,2	K562	blood:

No data

Variant related genes	Relation type
APH1A	CpG island
C1orf54	CpG island
ENSG00000271845	Chromatin interaction
ENSG00000118298	Chromatin interaction
ENSG00000159208	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10158314	1.00[EUR][1000 genomes]
rs10494265	1.00[EUR][1000 genomes]
rs10788868	1.00[EUR][1000 genomes]
rs13374103	1.00[EUR][1000 genomes]
rs13375753	1.00[EUR][1000 genomes]
rs1545761	1.00[EUR][1000 genomes]
rs16830437	0.91[ASN][1000 genomes]
rs16833591	1.00[EUR][1000 genomes]
rs16835652	1.00[EUR][1000 genomes]
rs16835699	0.91[ASN][1000 genomes]
rs16835708	0.91[ASN][1000 genomes]
rs16835782	0.91[ASN][1000 genomes]
rs16835791	0.91[ASN][1000 genomes]
rs16835911	0.87[ASN][1000 genomes]
rs16836130	0.87[ASN][1000 genomes]
rs16836139	0.87[ASN][1000 genomes]
rs16836442	0.87[ASN][1000 genomes]
rs16836576	0.83[ASN][1000 genomes]
rs16836594	0.83[ASN][1000 genomes]
rs16836601	0.83[ASN][1000 genomes]
rs16836786	0.83[ASN][1000 genomes]
rs2015966	0.87[ASN][1000 genomes]
rs2275778	0.98[ASN][1000 genomes]
rs2275779	0.87[ASN][1000 genomes]
rs3118123	1.00[EUR][1000 genomes]
rs3737319	0.87[ASN][1000 genomes]
rs3738322	0.89[ASN][1000 genomes]
rs3850843	0.83[ASN][1000 genomes]
rs4926420	0.87[ASN][1000 genomes]
rs522068	0.85[ASN][1000 genomes]
rs56877951	1.00[EUR][1000 genomes]
rs56882505	0.83[ASN][1000 genomes]
rs56909494	0.83[ASN][1000 genomes]
rs57163995	0.87[ASN][1000 genomes]
rs57361164	0.91[ASN][1000 genomes]
rs57788184	1.00[EUR][1000 genomes]
rs57819791	1.00[EUR][1000 genomes]
rs58516261	0.87[ASN][1000 genomes]
rs58922427	1.00[EUR][1000 genomes]
rs59082627	1.00[EUR][1000 genomes]
rs59367061	0.83[ASN][1000 genomes]
rs59639798	0.83[ASN][1000 genomes]
rs59682561	1.00[EUR][1000 genomes]
rs59821426	1.00[EUR][1000 genomes]
rs60109648	1.00[EUR][1000 genomes]
rs60307722	1.00[EUR][1000 genomes]
rs60456922	0.93[ASN][1000 genomes]
rs60459288	0.83[ASN][1000 genomes]
rs60531845	0.87[ASN][1000 genomes]
rs60616215	1.00[EUR][1000 genomes]
rs60730811	0.87[ASN][1000 genomes]
rs60758881	0.85[ASN][1000 genomes]
rs6587748	1.00[EUR][1000 genomes]
rs6671747	1.00[EUR][1000 genomes]
rs6679726	0.83[ASN][1000 genomes]
rs6680474	1.00[EUR][1000 genomes]
rs6689338	1.00[EUR][1000 genomes]
rs6689495	1.00[EUR][1000 genomes]
rs6700009	0.87[ASN][1000 genomes]
rs6700607	0.83[ASN][1000 genomes]
rs71622690	0.87[ASN][1000 genomes]
rs73011246	1.00[EUR][1000 genomes]
rs73011248	1.00[EUR][1000 genomes]
rs73011264	1.00[EUR][1000 genomes]
rs73011271	1.00[EUR][1000 genomes]
rs73011273	1.00[EUR][1000 genomes]
rs73011384	0.91[ASN][1000 genomes]
rs73011400	0.91[ASN][1000 genomes]
rs73013119	0.91[ASN][1000 genomes]
rs73013129	0.87[ASN][1000 genomes]
rs73015063	0.87[ASN][1000 genomes]
rs73015078	0.87[ASN][1000 genomes]
rs73015081	0.87[ASN][1000 genomes]
rs73015095	0.87[ASN][1000 genomes]
rs73015096	0.87[ASN][1000 genomes]
rs73016142	1.00[EUR][1000 genomes]
rs73016148	1.00[EUR][1000 genomes]
rs73017006	0.87[ASN][1000 genomes]
rs73017073	0.83[ASN][1000 genomes]
rs73017086	0.83[ASN][1000 genomes]
rs74124337	1.00[EUR][1000 genomes]
rs74124339	1.00[EUR][1000 genomes]
rs7520088	1.00[EUR][1000 genomes]
rs7527755	1.00[EUR][1000 genomes]
rs7543314	0.85[ASN][1000 genomes]
rs7548450	1.00[EUR][1000 genomes]
rs946521	1.00[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	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
3	nsv872415	chr1:150210538-150248046	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1009508	chr1:150211112-150270830	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv535154	chr1:150214907-150265508	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1011223	chr1:150229205-150279380	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150241800-150244600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:150241800-150244800	Weak transcription	Aorta	Aorta
3	chr1:150241800-150245200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:150241800-150245200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:150241800-150245400	Weak transcription	Lung	lung
6	chr1:150241800-150253400	Weak transcription	Ovary	ovary
7	chr1:150241800-150253800	Weak transcription	Esophagus	oesophagus
8	chr1:150241800-150253800	Weak transcription	Gastric	stomach
9	chr1:150241800-150254200	Weak transcription	Spleen	Spleen
10	chr1:150242000-150244600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:150242000-150244600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:150242000-150244600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:150242000-150244600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:150242000-150244600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:150242000-150244600	Weak transcription	NHDF-Ad	bronchial
16	chr1:150242000-150244800	Weak transcription	Placenta	Placenta
17	chr1:150242000-150244800	Weak transcription	NH-A	brain
18	chr1:150242000-150245200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:150242000-150245200	Weak transcription	Left Ventricle	heart
20	chr1:150242000-150253400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:150242000-150253800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:150242200-150244400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:150242200-150244400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:150242200-150244400	Weak transcription	Fetal Stomach	stomach
25	chr1:150242200-150244600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:150242200-150244600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:150242200-150244600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:150242200-150244600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:150242200-150244600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:150242200-150244600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:150242200-150244600	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:150242200-150244600	Weak transcription	Fetal Heart	heart
33	chr1:150242200-150244600	Weak transcription	HSMMtube	muscle
34	chr1:150242200-150244600	Weak transcription	NHLF	lung
35	chr1:150242200-150244600	Weak transcription	Osteobl	bone
36	chr1:150242200-150244800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:150242200-150244800	Weak transcription	Brain Angular Gyrus	brain
38	chr1:150242200-150245000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:150242200-150245200	Weak transcription	Brain Substantia Nigra	brain
40	chr1:150242200-150245200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:150242200-150245200	Weak transcription	HSMM	muscle
42	chr1:150242200-150245400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:150242200-150246000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:150242200-150248200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:150242200-150248600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:150242200-150250000	Weak transcription	Liver	Liver
47	chr1:150242200-150252600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:150242200-150253200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:150242200-150253200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr1:150242200-150253400	Weak transcription	Primary T cells from cord blood	blood

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