Variant report

Variant	rs532439826
Chromosome Location	chr8:121458597-121458598
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:121458512-121458661	MCF10A-Er-Src	breast:	n/a	n/a
2	HCFC1	chr8:121456654-121458709	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:121458556-121458606	H1-hESC	embryonic stem cell:	embryo
2	chr8:121458556-121458606	U87	brain:	n/a
3	chr8:121458556-121458606	MCF-7	breast:	n/a
4	chr8:121458556-121458606	SK-N-SH_RA	brain:	n/a
5	chr8:121458556-121458606	BE2_C	brain:	n/a
6	chr8:121458556-121458606	PrEC	prostate:	n/a
7	chr8:121458556-121458606	LNCaP	prostate:	n/a
8	chr8:121458556-121458606	CMK	blood:	n/a
9	chr8:121458556-121458606	HNPCEpiC	eye:	n/a
10	chr8:121458556-121458606	HRPEpiC	eye:	n/a
11	chr8:121458556-121458606	Jurkat	blood:	n/a
12	chr8:121458556-121458606	AG04450	lung:	fetal
13	chr8:121458556-121458606	GM12878	blood:	n/a
14	chr8:121458556-121458606	GM12892	blood:	n/a
15	chr8:121458556-121458606	K562	blood:	n/a
16	chr8:121458556-121458606	HMEC	breast:	n/a
17	chr8:121458556-121458606	HRCEpiC	kidney:	n/a
18	chr8:121458556-121458606	GM19239	blood:	n/a
19	chr8:121458556-121458606	SK-N-MC	brain:	n/a
20	chr8:121458556-121458606	RPTEC	kidney:	n/a
21	chr8:121458556-121458606	HEEpiC	esophagus:	n/a
22	chr8:121458556-121458606	SAEC	small airway:	n/a
23	chr8:121458556-121458606	SK-N-SH	brain:	n/a
24	chr8:121458556-121458606	IMR90	lung:	fetal
25	chr8:121458556-121458606	NT2-D1	testis:	n/a
26	chr8:121458556-121458606	NHBE	bronchial:	n/a
27	chr8:121458556-121458606	Hepatocyte	liver:	n/a
28	chr8:121458556-121458606	HL-60	blood:	n/a
29	chr8:121458556-121458606	HUVEC	blood vessel:	n/a
30	chr8:121458556-121458606	HCPEpiC	choroid plexus:	n/a
31	chr8:121458556-121458606	HPAEpiC	pulmonary alveolar:	n/a
32	chr8:121458556-121458606	A549	lung:	n/a
33	chr8:121458556-121458606	GM06990	blood:	n/a
34	chr8:121458556-121458606	HCF	heart:	n/a
35	chr8:121458556-121458606	HAEpiC	amniotic membrane:	n/a
36	chr8:121458556-121458606	MCF10A-Er-Src	breast:	n/a
37	chr8:121458556-121458606	BJ	skin:	n/a
38	chr8:121458556-121458606	Hela-S3	cervix:	n/a
39	chr8:121458556-121458606	SKMC	muscle:	n/a
40	chr8:121458556-121458606	ECC-1	luminal epithelium:	n/a
41	chr8:121458556-121458606	T-47D	breast:	n/a
42	chr8:121458556-121458606	HRE	kidney:	n/a
43	chr8:121458556-121458606	ProgFib	skin:	n/a
44	chr8:121458556-121458606	Caco-2	colon:	n/a
45	chr8:121458556-121458606	HEK293	kidney:	embryo
46	chr8:121458556-121458606	NH-A	brain:	n/a
47	chr8:121458556-121458606	HCT-116	colon:	n/a
48	chr8:121458556-121458606	NB4	blood:	n/a
49	chr8:121458556-121458606	AG04449	skin:	fetal
50	chr8:121458556-121458606	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121451054..121453168-chr8:121457842..121461614,3	K562	blood:

No data

Variant related genes	Relation type
MRPL13	TF binding region
MRPL13	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv470235	chr8:121437222-121526747	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv519152	chr8:121458457-121571266	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121455000-121458600	Active TSS	GM12878-XiMat	blood
2	chr8:121455800-121458800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr8:121456000-121458600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr8:121456000-121458600	Active TSS	A549	lung
5	chr8:121456000-121458800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:121456200-121458600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:121456200-121458600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:121456200-121458600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr8:121456200-121458600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr8:121456200-121458600	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr8:121456200-121458600	Active TSS	Thymus	Thymus
12	chr8:121456200-121459000	Active TSS	K562	blood
13	chr8:121456200-121459600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr8:121456400-121458600	Active TSS	H1 Cell Line	embryonic stem cell
15	chr8:121456400-121458600	Active TSS	Fetal Kidney	kidney
16	chr8:121456400-121458800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:121456600-121458600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:121456800-121458600	Active TSS	NH-A	brain
19	chr8:121457400-121458600	Active TSS	Brain Germinal Matrix	brain
20	chr8:121457600-121458600	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr8:121457800-121458600	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr8:121457800-121458600	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr8:121457800-121458600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:121457800-121458600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr8:121457800-121458600	Flanking Active TSS	HUVEC	blood vessel
26	chr8:121457800-121459000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:121457800-121459000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr8:121457800-121459000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:121457800-121459000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:121458000-121458600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:121458000-121458600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr8:121458000-121458600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr8:121458000-121458600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr8:121458000-121458600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr8:121458000-121458600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:121458000-121458600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr8:121458000-121458600	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr8:121458000-121458600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr8:121458000-121458600	Flanking Active TSS	Fetal Brain Female	brain
40	chr8:121458000-121458800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:121458000-121458800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:121458000-121458800	Flanking Active TSS	NHLF	lung
43	chr8:121458000-121465800	Weak transcription	Spleen	Spleen
44	chr8:121458000-121467200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:121458000-121468000	Weak transcription	Esophagus	oesophagus
46	chr8:121458000-121468200	Weak transcription	Gastric	stomach
47	chr8:121458000-121478400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:121458000-121480800	Weak transcription	Lung	lung
49	chr8:121458000-121480800	Weak transcription	Pancreas	Pancrea
50	chr8:121458000-121510400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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