Variant report

Variant	rs34761141
Chromosome Location	chr5:76249945-76249946
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr5:76249854-76249966	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:76249866-76249949	MCF-7	breast:	n/a	n/a
3	SUZ12	chr5:76249570-76250338	H1-hESC	embryonic stem cell:	n/a	n/a
4	TBP	chr5:76249000-76249955	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3A	chr5:76248792-76250197	H1-hESC	embryonic stem cell:	n/a	chr5:76249775-76249788 chr5:76249582-76249593
6	CTBP2	chr5:76248804-76250685	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:76249897-76249947	NB4	blood:	n/a
2	chr5:76249897-76249947	GM12891	blood:	n/a
3	chr5:76249897-76249947	AG04450	lung:	fetal
4	chr5:76249897-76249947	AoSMC	blood vessel:	n/a
5	chr5:76249897-76249947	H1-hESC	embryonic stem cell:	embryo
6	chr5:76249897-76249947	U87	brain:	n/a
7	chr5:76249897-76249947	IMR90	lung:	fetal
8	chr5:76249897-76249947	MCF-7	breast:	n/a
9	chr5:76249897-76249947	ovcar-3	ovarian:	n/a
10	chr5:76249897-76249947	SK-N-SH	brain:	n/a
11	chr5:76249897-76249947	Caco-2	colon:	n/a
12	chr5:76249897-76249947	HEEpiC	esophagus:	n/a
13	chr5:76249897-76249947	AG09309	skin:	n/a
14	chr5:76249897-76249947	GM12892	blood:	n/a
15	chr5:76249897-76249947	GM12878	blood:	n/a
16	chr5:76249897-76249947	Hepatocyte	liver:	n/a
17	chr5:76249897-76249947	SK-N-SH_RA	brain:	n/a
18	chr5:76249897-76249947	A549	lung:	n/a
19	chr5:76249897-76249947	ProgFib	skin:	n/a
20	chr5:76249897-76249947	AG09319	gingival:	n/a
21	chr5:76249897-76249947	GM06990	blood:	n/a
22	chr5:76249897-76249947	HCF	heart:	n/a
23	chr5:76249897-76249947	K562	blood:	n/a
24	chr5:76249897-76249947	HMEC	breast:	n/a
25	chr5:76249897-76249947	SKMC	muscle:	n/a
26	chr5:76249897-76249947	AG10803	skin:	n/a
27	chr5:76249897-76249947	HL-60	blood:	n/a
28	chr5:76249897-76249947	HRCEpiC	kidney:	n/a
29	chr5:76249897-76249947	GM19239	blood:	n/a
30	chr5:76249897-76249947	HCPEpiC	choroid plexus:	n/a
31	chr5:76249897-76249947	HAEpiC	amniotic membrane:	n/a
32	chr5:76249897-76249947	T-47D	breast:	n/a
33	chr5:76249897-76249947	PFSK-1	brain:	n/a
34	chr5:76249897-76249947	SAEC	small airway:	n/a
35	chr5:76249897-76249947	HEK293	kidney:	embryo
36	chr5:76249897-76249947	PANC-1	pancreas:	n/a
37	chr5:76249897-76249947	Jurkat	blood:	n/a
38	chr5:76249897-76249947	NT2-D1	testis:	n/a
39	chr5:76249897-76249947	BJ	skin:	n/a
40	chr5:76249897-76249947	AG04449	skin:	fetal
41	chr5:76249897-76249947	MCF10A-Er-Src	breast:	n/a
42	chr5:76249897-76249947	BE2_C	brain:	n/a
43	chr5:76249897-76249947	RPTEC	kidney:	n/a
44	chr5:76249897-76249947	HCM	heart:	n/a
45	chr5:76249897-76249947	NHDF-neo	bronchial:	n/a
46	chr5:76249897-76249947	HUVEC	blood vessel:	n/a
47	chr5:76249897-76249947	HRE	kidney:	n/a
48	chr5:76249897-76249947	NH-A	brain:	n/a
49	chr5:76249897-76249947	NHBE	bronchial:	n/a
50	chr5:76249897-76249947	HepG2	liver:	n/a

No data

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

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73129664	1.00[AMR][1000 genomes]
rs73131635	1.00[AMR][1000 genomes]
rs73131647	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3393424	chr5:76122720-76287744	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1027236	chr5:76190936-76414733	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv830355	chr5:76194722-76368020	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76248600-76251000	Active TSS	Right Atrium	heart
2	chr5:76248800-76250200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:76248800-76250400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr5:76248800-76250400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
5	chr5:76248800-76250400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:76248800-76250600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr5:76248800-76250600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr5:76248800-76250800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr5:76248800-76250800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr5:76248800-76250800	Active TSS	Brain Angular Gyrus	brain
11	chr5:76248800-76250800	Active TSS	Brain Substantia Nigra	brain
12	chr5:76249000-76250400	Bivalent Enhancer	Fetal Brain Male	brain
13	chr5:76249000-76250400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
14	chr5:76249000-76250600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:76249000-76250600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:76249000-76250600	Bivalent/Poised TSS	Fetal Brain Female	brain
17	chr5:76249000-76250600	Bivalent/Poised TSS	Left Ventricle	heart
18	chr5:76249000-76250600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
19	chr5:76249000-76250800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr5:76249000-76250800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr5:76249000-76250800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr5:76249000-76250800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr5:76249200-76250000	Active TSS	Brain Cingulate Gyrus	brain
24	chr5:76249200-76250000	Bivalent Enhancer	Fetal Lung	lung
25	chr5:76249200-76250200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:76249200-76250200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
27	chr5:76249200-76250200	Bivalent/Poised TSS	Colonic Mucosa	Colon
28	chr5:76249200-76250200	Bivalent/Poised TSS	A549	lung
29	chr5:76249200-76250200	Bivalent/Poised TSS	NHEK	skin
30	chr5:76249200-76250400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr5:76249200-76250400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:76249200-76250400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:76249200-76250400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:76249200-76250400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:76249200-76250400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
36	chr5:76249200-76250400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:76249200-76250400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:76249200-76250400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:76249200-76250400	Flanking Active TSS	Spleen	Spleen
40	chr5:76249200-76250400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
41	chr5:76249200-76250600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:76249200-76250600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
43	chr5:76249200-76250800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
44	chr5:76249400-76250000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:76249400-76250000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
46	chr5:76249400-76250000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
47	chr5:76249400-76250200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:76249400-76250200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:76249400-76250200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:76249400-76250200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast

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