Variant report

Variant	rs137861343
Chromosome Location	chr4:21951047-21951048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:21949895-21951210	SK-N-SH	brain:	n/a	chr4:21950602-21950620 chr4:21950604-21950617
2	NFIC	chr4:21950726-21951261	ECC-1	luminal epithelium:	n/a	n/a
3	TBP	chr4:21950891-21951260	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTBP2	chr4:21950634-21951259	H1-hESC	embryonic stem cell:	n/a	n/a
5	NFIC	chr4:21950819-21951255	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:21951046-21951096	CMK	blood:	n/a
2	chr4:21951046-21951096	HUVEC	blood vessel:	n/a
3	chr4:21951046-21951096	PrEC	prostate:	n/a
4	chr4:21951046-21951096	GM19239	blood:	n/a
5	chr4:21951046-21951096	HAEpiC	amniotic membrane:	n/a
6	chr4:21951046-21951096	ECC-1	luminal epithelium:	n/a
7	chr4:21951046-21951096	HRCEpiC	kidney:	n/a
8	chr4:21951046-21951096	HEEpiC	esophagus:	n/a
9	chr4:21951046-21951096	NT2-D1	testis:	n/a
10	chr4:21951046-21951096	Caco-2	colon:	n/a
11	chr4:21951046-21951096	MCF10A-Er-Src	breast:	n/a
12	chr4:21951046-21951096	HRPEpiC	eye:	n/a
13	chr4:21951046-21951096	HCT-116	colon:	n/a
14	chr4:21951046-21951096	HPAEpiC	pulmonary alveolar:	n/a
15	chr4:21951046-21951096	Hela-S3	cervix:	n/a
16	chr4:21951046-21951096	NHDF-neo	bronchial:	n/a
17	chr4:21951046-21951096	GM12891	blood:	n/a
18	chr4:21951046-21951096	GM12892	blood:	n/a
19	chr4:21951046-21951096	HMEC	breast:	n/a
20	chr4:21951046-21951096	K562	blood:	n/a
21	chr4:21951046-21951096	H1-hESC	embryonic stem cell:	embryo
22	chr4:21951046-21951096	HCPEpiC	choroid plexus:	n/a
23	chr4:21951046-21951096	T-47D	breast:	n/a
24	chr4:21951046-21951096	SAEC	small airway:	n/a
25	chr4:21951046-21951096	A549	lung:	n/a
26	chr4:21951046-21951096	Jurkat	blood:	n/a
27	chr4:21951046-21951096	SK-N-MC	brain:	n/a
28	chr4:21951046-21951096	AG09309	skin:	n/a
29	chr4:21951046-21951096	HepG2	liver:	n/a
30	chr4:21951046-21951096	Hepatocyte	liver:	n/a
31	chr4:21951046-21951096	U87	brain:	n/a
32	chr4:21951046-21951096	SK-N-SH_RA	brain:	n/a
33	chr4:21951046-21951096	GM06990	blood:	n/a
34	chr4:21951046-21951096	HCM	heart:	n/a
35	chr4:21951046-21951096	HIPEpiC	eye:	n/a
36	chr4:21951046-21951096	AG04450	lung:	fetal
37	chr4:21951046-21951096	MCF-7	breast:	n/a
38	chr4:21951046-21951096	SK-N-SH	brain:	n/a
39	chr4:21951046-21951096	IMR90	lung:	fetal
40	chr4:21951046-21951096	LNCaP	prostate:	n/a
41	chr4:21951046-21951096	BE2_C	brain:	n/a
42	chr4:21951046-21951096	SKMC	muscle:	n/a
43	chr4:21951046-21951096	PANC-1	pancreas:	n/a
44	chr4:21951046-21951096	HRE	kidney:	n/a
45	chr4:21951046-21951096	RPTEC	kidney:	n/a
46	chr4:21951046-21951096	AoSMC	blood vessel:	n/a
47	chr4:21951046-21951096	AG09319	gingival:	n/a
48	chr4:21951046-21951096	HEK293	kidney:	embryo
49	chr4:21951046-21951096	GM12878	blood:	n/a
50	chr4:21951046-21951096	NHBE	bronchial:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PACRGL-5	chr4:21950638-21951082	ENSG00000250039.2
2	lnc-PACRGL-5	chr4:21950638-21951082	ENSG00000250039.3

No data

Variant related genes	Relation type
KCNIP4	TF binding region
KCNIP4	CpG island

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817467	chr4:21602921-22422816	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2757924	chr4:21873204-21980559	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2759231	chr4:21873204-21980559	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv428440	chr4:21873204-21980559	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3524226	chr4:21949654-21951752	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	n/a
6	esv3524227	chr4:21949654-21951752	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21948000-21951400	Active TSS	Brain Anterior Caudate	brain
2	chr4:21949200-21951200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr4:21949400-21951200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr4:21949400-21951200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr4:21949600-21951200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr4:21949600-21951200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:21949600-21951200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
8	chr4:21949600-21951400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr4:21949800-21951200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:21949800-21951200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:21949800-21951200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
12	chr4:21949800-21951200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
13	chr4:21949800-21951200	Bivalent/Poised TSS	Osteobl	bone
14	chr4:21950000-21951200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr4:21950000-21951200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:21950000-21951200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:21950000-21951200	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
18	chr4:21950000-21951200	Active TSS	Fetal Kidney	kidney
19	chr4:21950000-21951200	Active TSS	NH-A	brain
20	chr4:21950000-21951400	Active TSS	Brain Angular Gyrus	brain
21	chr4:21950000-21951400	Active TSS	Rectal Smooth Muscle	rectum
22	chr4:21950000-21951600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:21950000-21951600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:21950200-21951200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:21950200-21951200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
26	chr4:21950200-21951200	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
27	chr4:21950400-21951200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:21950400-21951200	Enhancers	Gastric	stomach
29	chr4:21950400-21951200	Enhancers	Pancreas	Pancrea
30	chr4:21950400-21951200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
31	chr4:21950600-21951200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:21950600-21951200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr4:21950800-21951200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:21950800-21951200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:21950800-21951200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:21950800-21951200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:21950800-21951200	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr4:21950800-21951200	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr4:21950800-21951200	Flanking Active TSS	Fetal Brain Female	brain
40	chr4:21950800-21951600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
41	chr4:21951000-21951200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr4:21951000-21951200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:21951000-21951200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
44	chr4:21951000-21951200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
45	chr4:21951000-21951200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr4:21951000-21951200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:21951000-21951200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:21951000-21951200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:21951000-21951200	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
50	chr4:21951000-21951200	Bivalent/Poised TSS	Brain Germinal Matrix	brain

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