Variant report

Variant	rs10305845
Chromosome Location	chr4:148401398-148401399
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr4:148401353-148401571	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF263	chr4:148400958-148403107	HEK293-T-REx	kidney:	n/a	n/a
3	POLR2A	chr4:148400795-148401431	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr4:148400935-148401417	SK-N-MC	brain:	n/a	n/a
5	MXI1	chr4:148400942-148403441	IMR90	lung:	n/a	n/a
6	MYC	chr4:148400341-148401460	MCF10A-Er-Src	breast:	n/a	n/a
7	KAP1	chr4:148401005-148401694	HEK293	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:148401351-148401401	CMK	blood:	n/a
2	chr4:148401351-148401401	GM19239	blood:	n/a
3	chr4:148401351-148401401	H1-hESC	embryonic stem cell:	embryo
4	chr4:148401351-148401401	NT2-D1	testis:	n/a
5	chr4:148401351-148401401	RPTEC	kidney:	n/a
6	chr4:148401351-148401401	HRPEpiC	eye:	n/a
7	chr4:148401351-148401401	BE2_C	brain:	n/a
8	chr4:148401351-148401401	ovcar-3	ovarian:	n/a
9	chr4:148401351-148401401	HRCEpiC	kidney:	n/a
10	chr4:148401351-148401401	HUVEC	blood vessel:	n/a
11	chr4:148401351-148401401	HCM	heart:	n/a
12	chr4:148401351-148401401	Hepatocyte	liver:	n/a
13	chr4:148401351-148401401	BJ	skin:	n/a
14	chr4:148401351-148401401	HCPEpiC	choroid plexus:	n/a
15	chr4:148401351-148401401	NB4	blood:	n/a
16	chr4:148401351-148401401	Caco-2	colon:	n/a
17	chr4:148401351-148401401	AG09319	gingival:	n/a
18	chr4:148401351-148401401	AG04450	lung:	fetal
19	chr4:148401351-148401401	A549	lung:	n/a
20	chr4:148401351-148401401	SK-N-SH	brain:	n/a
21	chr4:148401351-148401401	IMR90	lung:	fetal
22	chr4:148401351-148401401	HepG2	liver:	n/a
23	chr4:148401351-148401401	HEK293	kidney:	embryo
24	chr4:148401351-148401401	HNPCEpiC	eye:	n/a
25	chr4:148401351-148401401	ECC-1	luminal epithelium:	n/a
26	chr4:148401351-148401401	SK-N-SH_RA	brain:	n/a
27	chr4:148401351-148401401	HCT-116	colon:	n/a
28	chr4:148401351-148401401	ProgFib	skin:	n/a
29	chr4:148401351-148401401	U87	brain:	n/a
30	chr4:148401351-148401401	SAEC	small airway:	n/a
31	chr4:148401351-148401401	GM12878	blood:	n/a
32	chr4:148401351-148401401	GM06990	blood:	n/a
33	chr4:148401351-148401401	AG04449	skin:	fetal
34	chr4:148401351-148401401	AG09309	skin:	n/a
35	chr4:148401351-148401401	HAEpiC	amniotic membrane:	n/a
36	chr4:148401351-148401401	K562	blood:	n/a
37	chr4:148401351-148401401	GM12892	blood:	n/a
38	chr4:148401351-148401401	PrEC	prostate:	n/a
39	chr4:148401351-148401401	SK-N-MC	brain:	n/a
40	chr4:148401351-148401401	NH-A	brain:	n/a
41	chr4:148401351-148401401	HL-60	blood:	n/a
42	chr4:148401351-148401401	HRE	kidney:	n/a
43	chr4:148401351-148401401	HMEC	breast:	n/a
44	chr4:148401351-148401401	HPAEpiC	pulmonary alveolar:	n/a
45	chr4:148401351-148401401	PANC-1	pancreas:	n/a
46	chr4:148401351-148401401	HEEpiC	esophagus:	n/a
47	chr4:148401351-148401401	T-47D	breast:	n/a
48	chr4:148401351-148401401	HCF	heart:	n/a
49	chr4:148401351-148401401	GM12891	blood:	n/a
50	chr4:148401351-148401401	Jurkat	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148400285..148404582-chr4:148404756..148408817,4	K562	blood:

No data

Variant related genes	Relation type
EDNRA	TF binding region
EDNRA	CpG island
ENSG00000151617	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10305848	1.00[AMR][1000 genomes]
rs10305851	1.00[AMR][1000 genomes]
rs10305853	1.00[AMR][1000 genomes]
rs10305859	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305869	1.00[AMR][1000 genomes]
rs10305880	1.00[AMR][1000 genomes]
rs10305885	1.00[ASW][hapmap];0.86[LWK][hapmap];0.87[MKK][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305908	0.85[LWK][hapmap]
rs11930745	1.00[AMR][1000 genomes]
rs11930820	1.00[AMR][1000 genomes]
rs11933442	1.00[AMR][1000 genomes]
rs11937200	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11941665	1.00[AMR][1000 genomes]
rs11942203	1.00[AMR][1000 genomes]
rs11942234	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11942855	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11944922	1.00[AMR][1000 genomes]
rs11946826	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11947440	1.00[AMR][1000 genomes]
rs1400555	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023371	1.00[AMR][1000 genomes]
rs17023373	1.00[AMR][1000 genomes]
rs56787274	1.00[AMR][1000 genomes]
rs57268018	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57342589	1.00[AMR][1000 genomes]
rs57772875	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58576007	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58791171	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58824158	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59458570	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60433830	1.00[AMR][1000 genomes]
rs6818686	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6825558	1.00[AMR][1000 genomes]
rs72953564	1.00[AMR][1000 genomes]
rs72953576	1.00[AMR][1000 genomes]
rs72953582	1.00[AMR][1000 genomes]
rs72953588	1.00[AMR][1000 genomes]
rs72953589	1.00[AMR][1000 genomes]
rs72955634	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72955654	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72955655	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72955684	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72955687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959547	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959554	1.00[AMR][1000 genomes]
rs72959560	1.00[AMR][1000 genomes]
rs72959562	1.00[AMR][1000 genomes]
rs72959579	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959582	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959595	0.87[AFR][1000 genomes]
rs72961617	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72961622	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7660300	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7684691	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7684717	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7684882	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7685896	0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7685925	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7686338	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7686739	0.87[AFR][1000 genomes];1.00[AMR][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	nsv830109	chr4:148295061-148468605	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148397400-148401600	Weak transcription	Aorta	Aorta
2	chr4:148399400-148401600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr4:148400400-148401400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:148400400-148401800	Enhancers	HMEC	breast
5	chr4:148400400-148402000	Enhancers	Esophagus	oesophagus
6	chr4:148400600-148401400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:148400600-148401400	Enhancers	Fetal Muscle Leg	muscle
8	chr4:148400800-148401600	Enhancers	Fetal Stomach	stomach
9	chr4:148400800-148401800	Enhancers	NH-A	brain
10	chr4:148400800-148401800	Enhancers	NHDF-Ad	bronchial
11	chr4:148400800-148402000	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr4:148401000-148401400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr4:148401000-148401400	Enhancers	NHEK	skin
14	chr4:148401000-148401600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:148401000-148401600	Enhancers	Fetal Muscle Trunk	muscle
16	chr4:148401000-148401600	Enhancers	Right Atrium	heart
17	chr4:148401000-148401800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:148401000-148401800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:148401000-148401800	Enhancers	Left Ventricle	heart
20	chr4:148401000-148402000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:148401000-148402000	Flanking Active TSS	Fetal Heart	heart
22	chr4:148401200-148401400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:148401200-148401400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:148401200-148401400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr4:148401200-148401600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr4:148401200-148401600	Flanking Active TSS	Fetal Lung	lung
27	chr4:148401200-148401600	Enhancers	Gastric	stomach
28	chr4:148401200-148401800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:148401200-148401800	Bivalent Enhancer	Fetal Thymus	thymus
30	chr4:148401200-148401800	Enhancers	Ovary	ovary
31	chr4:148401200-148401800	Enhancers	NHLF	lung
32	chr4:148401200-148401800	Enhancers	Osteobl	bone
33	chr4:148401200-148402000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:148401200-148402200	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr4:148401200-148404000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle

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