Variant report

Variant	rs60235346
Chromosome Location	chr2:234195916-234195917
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: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	chr2:234195915-234195965	AG04449	skin:	fetal
2	chr2:234195915-234195965	HCM	heart:	n/a
3	chr2:234195915-234195965	Hepatocyte	liver:	n/a
4	chr2:234195915-234195965	H1-hESC	embryonic stem cell:	embryo
5	chr2:234195915-234195965	K562	blood:	n/a
6	chr2:234195915-234195965	RPTEC	kidney:	n/a
7	chr2:234195915-234195965	AG04450	lung:	fetal
8	chr2:234195915-234195965	SK-N-MC	brain:	n/a
9	chr2:234195915-234195965	AG09319	gingival:	n/a
10	chr2:234195915-234195965	NHBE	bronchial:	n/a
11	chr2:234195915-234195965	HL-60	blood:	n/a
12	chr2:234195915-234195965	ovcar-3	ovarian:	n/a
13	chr2:234195915-234195965	BJ	skin:	n/a
14	chr2:234195915-234195965	ECC-1	luminal epithelium:	n/a
15	chr2:234195915-234195965	Hela-S3	cervix:	n/a
16	chr2:234195915-234195965	HEK293	kidney:	embryo
17	chr2:234195915-234195965	SK-N-SH	brain:	n/a
18	chr2:234195915-234195965	NT2-D1	testis:	n/a
19	chr2:234195915-234195965	ProgFib	skin:	n/a
20	chr2:234195915-234195965	GM06990	blood:	n/a
21	chr2:234195915-234195965	HIPEpiC	eye:	n/a
22	chr2:234195915-234195965	HAEpiC	amniotic membrane:	n/a
23	chr2:234195915-234195965	Jurkat	blood:	n/a
24	chr2:234195915-234195965	GM12878	blood:	n/a
25	chr2:234195915-234195965	HRCEpiC	kidney:	n/a
26	chr2:234195915-234195965	AoSMC	blood vessel:	n/a
27	chr2:234195915-234195965	HRPEpiC	eye:	n/a
28	chr2:234195915-234195965	HRE	kidney:	n/a
29	chr2:234195915-234195965	LNCaP	prostate:	n/a
30	chr2:234195915-234195965	HCF	heart:	n/a
31	chr2:234195915-234195965	HPAEpiC	pulmonary alveolar:	n/a
32	chr2:234195915-234195965	GM12892	blood:	n/a
33	chr2:234195915-234195965	U87	brain:	n/a
34	chr2:234195915-234195965	BE2_C	brain:	n/a
35	chr2:234195915-234195965	NB4	blood:	n/a
36	chr2:234195915-234195965	HepG2	liver:	n/a
37	chr2:234195915-234195965	HUVEC	blood vessel:	n/a
38	chr2:234195915-234195965	MCF-7	breast:	n/a
39	chr2:234195915-234195965	T-47D	breast:	n/a
40	chr2:234195915-234195965	A549	lung:	n/a
41	chr2:234195915-234195965	HNPCEpiC	eye:	n/a
42	chr2:234195915-234195965	AG09309	skin:	n/a
43	chr2:234195915-234195965	AG10803	skin:	n/a
44	chr2:234195915-234195965	IMR90	lung:	fetal
45	chr2:234195915-234195965	PrEC	prostate:	n/a
46	chr2:234195915-234195965	CMK	blood:	n/a
47	chr2:234195915-234195965	SKMC	muscle:	n/a
48	chr2:234195915-234195965	NHDF-neo	bronchial:	n/a
49	chr2:234195915-234195965	HEEpiC	esophagus:	n/a
50	chr2:234195915-234195965	HCPEpiC	choroid plexus:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:234184025..234186339-chr2:234195161..234196726,2	MCF-7	breast:
2	chr2:234193437..234196062-chr2:234199824..234202606,2	K562	blood:
3	chr2:234160050..234162260-chr2:234194203..234196902,2	MCF-7	breast:
4	chr2:234159075..234160799-chr2:234195887..234199490,3	MCF-7	breast:

No data

Variant related genes	Relation type
SCARNA6	CpG island
ATG16L1	CpG island
ENSG00000252010	Chromatin interaction
ENSG00000085978	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56110243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57581294	1.00[AFR][1000 genomes]
rs73998308	1.00[AMR][1000 genomes]
rs73998310	1.00[AMR][1000 genomes]
rs73998311	1.00[AMR][1000 genomes]
rs73998321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73998322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73998323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73998324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73998325	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73998326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73998328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73998330	1.00[AFR][1000 genomes]
rs73998344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73998345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73998346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73998351	1.00[AFR][1000 genomes];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	nsv584699	chr2:234182240-234255547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234162200-234205200	Strong transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:234162200-234205200	Strong transcription	Fetal Muscle Trunk	muscle
3	chr2:234162400-234196400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:234162400-234205200	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr2:234162400-234205400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:234162600-234205000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:234162600-234205200	Strong transcription	Fetal Muscle Leg	muscle
8	chr2:234162800-234197000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:234162800-234205600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:234163200-234206000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:234164200-234205400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:234164200-234205400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:234164400-234196800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:234164400-234197200	Strong transcription	Adipose Nuclei	Adipose
15	chr2:234164600-234206000	Strong transcription	HepG2	liver
16	chr2:234165000-234206000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:234165200-234205400	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:234166800-234206000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:234169400-234197200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:234172200-234204800	Strong transcription	Placenta	Placenta
21	chr2:234174000-234196000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:234176800-234207800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:234177000-234206000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:234177200-234205400	Strong transcription	Dnd41	blood
25	chr2:234177800-234197200	Strong transcription	Left Ventricle	heart
26	chr2:234178000-234196400	Strong transcription	Brain Anterior Caudate	brain
27	chr2:234178400-234205200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:234179000-234206200	Strong transcription	Fetal Thymus	thymus
29	chr2:234179200-234205600	Strong transcription	Fetal Brain Female	brain
30	chr2:234179600-234204000	Strong transcription	HUVEC	blood vessel
31	chr2:234179600-234205400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:234179600-234205400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:234179600-234205600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:234179800-234205200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr2:234180800-234206400	Strong transcription	Thymus	Thymus
36	chr2:234181000-234205200	Strong transcription	Liver	Liver
37	chr2:234181400-234216400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr2:234182400-234206000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:234183000-234204400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:234183200-234197400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:234184200-234197400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr2:234186800-234198200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:234187200-234198200	Weak transcription	Fetal Heart	heart
44	chr2:234187400-234198000	Weak transcription	Fetal Kidney	kidney
45	chr2:234189200-234205200	Strong transcription	Brain Germinal Matrix	brain
46	chr2:234189200-234205400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr2:234189200-234205600	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:234189600-234205200	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr2:234189800-234197400	Strong transcription	Lung	lung
50	chr2:234189800-234204600	Strong transcription	Placenta Amnion	Placenta Amnion

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