Variant report

Variant	rs2411992
Chromosome Location	chr5:178422455-178422456
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:0)
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	chr5:178422415-178422465	SK-N-MC	brain:	n/a
2	chr5:178422415-178422465	NHBE	bronchial:	n/a
3	chr5:178422415-178422465	AG09319	gingival:	n/a
4	chr5:178422415-178422465	Hepatocyte	liver:	n/a
5	chr5:178422415-178422465	AoSMC	blood vessel:	n/a
6	chr5:178422415-178422465	SAEC	small airway:	n/a
7	chr5:178422415-178422465	ECC-1	luminal epithelium:	n/a
8	chr5:178422415-178422465	IMR90	lung:	fetal
9	chr5:178422415-178422465	A549	lung:	n/a
10	chr5:178422415-178422465	CMK	blood:	n/a
11	chr5:178422415-178422465	NH-A	brain:	n/a
12	chr5:178422415-178422465	U87	brain:	n/a
13	chr5:178422415-178422465	NT2-D1	testis:	n/a
14	chr5:178422415-178422465	GM12892	blood:	n/a
15	chr5:178422415-178422465	ovcar-3	ovarian:	n/a
16	chr5:178422415-178422465	HIPEpiC	eye:	n/a
17	chr5:178422415-178422465	HRPEpiC	eye:	n/a
18	chr5:178422415-178422465	HRE	kidney:	n/a
19	chr5:178422415-178422465	NHDF-neo	bronchial:	n/a
20	chr5:178422415-178422465	PFSK-1	brain:	n/a
21	chr5:178422415-178422465	RPTEC	kidney:	n/a
22	chr5:178422415-178422465	GM12878	blood:	n/a
23	chr5:178422415-178422465	GM19239	blood:	n/a
24	chr5:178422415-178422465	AG09309	skin:	n/a
25	chr5:178422415-178422465	PANC-1	pancreas:	n/a
26	chr5:178422415-178422465	SK-N-SH	brain:	n/a
27	chr5:178422415-178422465	NB4	blood:	n/a
28	chr5:178422415-178422465	AG04450	lung:	fetal
29	chr5:178422415-178422465	MCF10A-Er-Src	breast:	n/a
30	chr5:178422415-178422465	BE2_C	brain:	n/a
31	chr5:178422415-178422465	HRCEpiC	kidney:	n/a
32	chr5:178422415-178422465	HUVEC	blood vessel:	n/a
33	chr5:178422415-178422465	HEEpiC	esophagus:	n/a
34	chr5:178422415-178422465	Caco-2	colon:	n/a
35	chr5:178422415-178422465	PrEC	prostate:	n/a
36	chr5:178422415-178422465	LNCaP	prostate:	n/a
37	chr5:178422415-178422465	SK-N-SH_RA	brain:	n/a
38	chr5:178422415-178422465	SKMC	muscle:	n/a
39	chr5:178422415-178422465	K562	blood:	n/a
40	chr5:178422415-178422465	HCT-116	colon:	n/a
41	chr5:178422415-178422465	H1-hESC	embryonic stem cell:	embryo
42	chr5:178422415-178422465	Jurkat	blood:	n/a
43	chr5:178422415-178422465	HMEC	breast:	n/a
44	chr5:178422415-178422465	T-47D	breast:	n/a
45	chr5:178422415-178422465	HL-60	blood:	n/a
46	chr5:178422415-178422465	ProgFib	skin:	n/a
47	chr5:178422415-178422465	GM06990	blood:	n/a
48	chr5:178422415-178422465	BJ	skin:	n/a
49	chr5:178422415-178422465	GM12891	blood:	n/a
50	chr5:178422415-178422465	AG04449	skin:	fetal

No data

Variant related genes	Relation type
GRM6	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2071246	0.86[ASN][1000 genomes]
rs2645331	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv600489	chr5:178368096-178430375	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1017941	chr5:178384214-178427401	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv537974	chr5:178384214-178427401	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv883219	chr5:178390237-178454118	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv883220	chr5:178394717-178454118	ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv600490	chr5:178405251-178430375	Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv883221	chr5:178410538-178454118	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1024560	chr5:178415364-178917595	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv537975	chr5:178415364-178917595	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	esv3415652	chr5:178420896-178422994	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178421200-178422600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr5:178421200-178422800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr5:178421200-178422800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr5:178421400-178422600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr5:178421400-178422600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:178421400-178422800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr5:178421400-178423000	Bivalent/Poised TSS	Fetal Brain Female	brain
8	chr5:178421800-178422600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
9	chr5:178421800-178422600	Enhancers	Primary hematopoietic stem cells	blood
10	chr5:178422000-178422600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:178422200-178422600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
12	chr5:178422200-178422600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:178422200-178422600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:178422400-178422600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:178422400-178422600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
16	chr5:178422400-178422600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
17	chr5:178422400-178422600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:178422400-178422600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:178422400-178422600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
20	chr5:178422400-178422600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr5:178422400-178422600	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr5:178422400-178422800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:178422400-178423000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
24	chr5:178422400-178423000	Bivalent Enhancer	Brain Germinal Matrix	brain
25	chr5:178422400-178423400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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