Variant report

Variant	rs58943295
Chromosome Location	chr1:227926842-227926843
allele	C/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:4)
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	chr1:227926803-227926853	HCM	heart:	n/a
2	chr1:227926803-227926853	A549	lung:	n/a
3	chr1:227926803-227926853	HRPEpiC	eye:	n/a
4	chr1:227926803-227926853	SKMC	muscle:	n/a
5	chr1:227926803-227926853	GM19239	blood:	n/a
6	chr1:227926803-227926853	HMEC	breast:	n/a
7	chr1:227926803-227926853	HRE	kidney:	n/a
8	chr1:227926803-227926853	ECC-1	luminal epithelium:	n/a
9	chr1:227926803-227926853	LNCaP	prostate:	n/a
10	chr1:227926803-227926853	HIPEpiC	eye:	n/a
11	chr1:227926803-227926853	HL-60	blood:	n/a
12	chr1:227926803-227926853	SK-N-MC	brain:	n/a
13	chr1:227926803-227926853	HCPEpiC	choroid plexus:	n/a
14	chr1:227926803-227926853	Jurkat	blood:	n/a
15	chr1:227926803-227926853	Caco-2	colon:	n/a
16	chr1:227926803-227926853	Hela-S3	cervix:	n/a
17	chr1:227926803-227926853	MCF10A-Er-Src	breast:	n/a
18	chr1:227926803-227926853	AG09319	gingival:	n/a
19	chr1:227926803-227926853	HCT-116	colon:	n/a
20	chr1:227926803-227926853	AG09309	skin:	n/a
21	chr1:227926803-227926853	NH-A	brain:	n/a
22	chr1:227926803-227926853	PANC-1	pancreas:	n/a
23	chr1:227926803-227926853	AG04450	lung:	fetal
24	chr1:227926803-227926853	GM12891	blood:	n/a
25	chr1:227926803-227926853	GM06990	blood:	n/a
26	chr1:227926803-227926853	HUVEC	blood vessel:	n/a
27	chr1:227926803-227926853	CMK	blood:	n/a
28	chr1:227926803-227926853	NB4	blood:	n/a
29	chr1:227926803-227926853	H1-hESC	embryonic stem cell:	embryo
30	chr1:227926803-227926853	HepG2	liver:	n/a
31	chr1:227926803-227926853	SK-N-SH	brain:	n/a
32	chr1:227926803-227926853	HEK293	kidney:	embryo
33	chr1:227926803-227926853	HRCEpiC	kidney:	n/a
34	chr1:227926803-227926853	T-47D	breast:	n/a
35	chr1:227926803-227926853	NHBE	bronchial:	n/a
36	chr1:227926803-227926853	AG04449	skin:	fetal
37	chr1:227926803-227926853	MCF-7	breast:	n/a
38	chr1:227926803-227926853	Hepatocyte	liver:	n/a
39	chr1:227926803-227926853	ovcar-3	ovarian:	n/a
40	chr1:227926803-227926853	AoSMC	blood vessel:	n/a
41	chr1:227926803-227926853	GM12878	blood:	n/a
42	chr1:227926803-227926853	BE2_C	brain:	n/a
43	chr1:227926803-227926853	HCF	heart:	n/a
44	chr1:227926803-227926853	IMR90	lung:	fetal
45	chr1:227926803-227926853	PFSK-1	brain:	n/a
46	chr1:227926803-227926853	PrEC	prostate:	n/a
47	chr1:227926803-227926853	NHDF-neo	bronchial:	n/a
48	chr1:227926803-227926853	HAEpiC	amniotic membrane:	n/a
49	chr1:227926803-227926853	U87	brain:	n/a
50	chr1:227926803-227926853	SAEC	small airway:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227926788..227928510-chr1:227944634..227947567,2	MCF-7	breast:
2	chr1:227926751..227929436-chr1:228101805..228104001,2	K562	blood:
3	chr1:227924900..227928160-chr1:227933336..227936259,3	K562	blood:
4	chr1:227915265..227918095-chr1:227926782..227928720,2	K562	blood:

No data

Variant related genes	Relation type
JMJD4	CpG island
ENSG00000230005	Chromatin interaction
ENSG00000143740	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1495844	1.00[AMR][1000 genomes]
rs1587156	1.00[AMR][1000 genomes]
rs2644152	1.00[AMR][1000 genomes]
rs2819499	1.00[AMR][1000 genomes]
rs2935150	1.00[AMR][1000 genomes]
rs2999749	1.00[AMR][1000 genomes]
rs3010189	1.00[AMR][1000 genomes]
rs57057216	1.00[AMR][1000 genomes]
rs61745453	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv515496	chr1:227912474-227967938	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv873249	chr1:227920061-228121548	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227923800-227935600	Weak transcription	Aorta	Aorta
2	chr1:227924000-227928200	Weak transcription	Right Atrium	heart
3	chr1:227924000-227932000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:227924000-227935400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:227924000-227935600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr1:227924000-227936400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:227924200-227927000	Weak transcription	Fetal Intestine Large	intestine
8	chr1:227924200-227927000	Weak transcription	Spleen	Spleen
9	chr1:227924200-227927400	Weak transcription	Gastric	stomach
10	chr1:227924200-227927600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:227924200-227930800	Weak transcription	NHEK	skin
12	chr1:227924200-227931200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:227924200-227931600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:227924200-227931600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:227924200-227931800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:227924200-227932000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:227924200-227932400	Weak transcription	Fetal Thymus	thymus
18	chr1:227924200-227933800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr1:227924200-227933800	Weak transcription	HMEC	breast
20	chr1:227924200-227934600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:227924200-227934800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:227924200-227935000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:227924200-227935000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:227924200-227935000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:227924200-227935400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:227924200-227935400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:227924200-227935400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:227924200-227935400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:227924200-227935400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:227924200-227935400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:227924200-227935400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr1:227924200-227935400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:227924200-227935600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:227924200-227935600	Weak transcription	Primary B cells from cord blood	blood
35	chr1:227924200-227935800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr1:227924200-227935800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:227924200-227935800	Weak transcription	A549	lung
38	chr1:227924200-227936000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:227924200-227936000	Weak transcription	Fetal Kidney	kidney
40	chr1:227924200-227940800	Weak transcription	HSMMtube	muscle
41	chr1:227924200-227941200	Weak transcription	HSMM	muscle
42	chr1:227924200-227941200	Weak transcription	NHDF-Ad	bronchial
43	chr1:227924200-227941600	Weak transcription	Osteobl	bone
44	chr1:227924200-227942000	Weak transcription	Hela-S3	cervix
45	chr1:227924200-227946800	Weak transcription	HUVEC	blood vessel
46	chr1:227924200-227955000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr1:227924400-227931400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:227924400-227932000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:227924400-227935400	Weak transcription	Fetal Lung	lung
50	chr1:227924400-227935800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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