Variant report

Variant	rs16825964
Chromosome Location	chr3:156009420-156009421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr3:156009173-156009654	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr3:156009300-156009450	SK-N-SH_RA	brain:	n/a	n/a
3	SIN3AK20	chr3:156009222-156009968	SK-N-SH	brain:	n/a	n/a
4	REST	chr3:156008413-156009849	H1-neurons	neurons:	n/a	chr3:156009587-156009600
5	CTBP2	chr3:156008784-156009698	H1-hESC	embryonic stem cell:	n/a	n/a
6	RFX5	chr3:156009400-156009709	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3A	chr3:156008949-156009490	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr3:156008584-156009620	H1-neurons	neurons:	n/a	n/a
9	RAD21	chr3:156009126-156009857	SK-N-SH_RA	brain:	n/a	n/a
10	SUZ12	chr3:156008046-156010367	NT2-D1	testis:	n/a	n/a
11	POLR2A	chr3:156008572-156010012	H1-neurons	neurons:	n/a	n/a
12	TBP	chr3:156009211-156009852	H1-hESC	embryonic stem cell:	n/a	n/a
13	FOXP2	chr3:156009295-156009548	SK-N-MC	brain:	n/a	n/a
14	YY1	chr3:156008957-156009546	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr3:156008208-156010067	SK-N-SH	brain:	n/a	n/a
16	TAF1	chr3:156009120-156009919	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:156009398-156009448	RPTEC	kidney:	n/a
2	chr3:156009398-156009448	BJ	skin:	n/a
3	chr3:156009398-156009448	LNCaP	prostate:	n/a
4	chr3:156009398-156009448	SAEC	small airway:	n/a
5	chr3:156009398-156009448	AG09319	gingival:	n/a
6	chr3:156009398-156009448	HEEpiC	esophagus:	n/a
7	chr3:156009398-156009448	GM19239	blood:	n/a
8	chr3:156009398-156009448	Hela-S3	cervix:	n/a
9	chr3:156009398-156009448	NHBE	bronchial:	n/a
10	chr3:156009398-156009448	HL-60	blood:	n/a
11	chr3:156009398-156009448	HIPEpiC	eye:	n/a
12	chr3:156009398-156009448	GM12891	blood:	n/a
13	chr3:156009398-156009448	PFSK-1	brain:	n/a
14	chr3:156009398-156009448	HRE	kidney:	n/a
15	chr3:156009398-156009448	AoSMC	blood vessel:	n/a
16	chr3:156009398-156009448	ProgFib	skin:	n/a
17	chr3:156009398-156009448	K562	blood:	n/a
18	chr3:156009398-156009448	HEK293	kidney:	embryo
19	chr3:156009398-156009448	Caco-2	colon:	n/a
20	chr3:156009398-156009448	HRPEpiC	eye:	n/a
21	chr3:156009398-156009448	SKMC	muscle:	n/a
22	chr3:156009398-156009448	Jurkat	blood:	n/a
23	chr3:156009398-156009448	H1-hESC	embryonic stem cell:	embryo
24	chr3:156009398-156009448	T-47D	breast:	n/a
25	chr3:156009398-156009448	HCF	heart:	n/a
26	chr3:156009398-156009448	HPAEpiC	pulmonary alveolar:	n/a
27	chr3:156009398-156009448	HMEC	breast:	n/a
28	chr3:156009398-156009448	SK-N-MC	brain:	n/a
29	chr3:156009398-156009448	HAEpiC	amniotic membrane:	n/a
30	chr3:156009398-156009448	HCPEpiC	choroid plexus:	n/a
31	chr3:156009398-156009448	PrEC	prostate:	n/a
32	chr3:156009398-156009448	AG09309	skin:	n/a
33	chr3:156009398-156009448	ECC-1	luminal epithelium:	n/a
34	chr3:156009398-156009448	HCM	heart:	n/a
35	chr3:156009398-156009448	GM12878	blood:	n/a
36	chr3:156009398-156009448	NT2-D1	testis:	n/a
37	chr3:156009398-156009448	Hepatocyte	liver:	n/a
38	chr3:156009398-156009448	U87	brain:	n/a
39	chr3:156009398-156009448	NB4	blood:	n/a
40	chr3:156009398-156009448	AG04449	skin:	fetal
41	chr3:156009398-156009448	NH-A	brain:	n/a
42	chr3:156009398-156009448	NHDF-neo	bronchial:	n/a
43	chr3:156009398-156009448	HUVEC	blood vessel:	n/a
44	chr3:156009398-156009448	AG10803	skin:	n/a
45	chr3:156009398-156009448	BE2_C	brain:	n/a
46	chr3:156009398-156009448	ovcar-3	ovarian:	n/a
47	chr3:156009398-156009448	IMR90	lung:	fetal
48	chr3:156009398-156009448	A549	lung:	n/a
49	chr3:156009398-156009448	PANC-1	pancreas:	n/a
50	chr3:156009398-156009448	GM12892	blood:	n/a

No data

Variant related genes	Relation type
KCNAB1	TF binding region
KCNAB1	CpG island

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13327461	1.00[MEX][hapmap]
rs9828266	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv592085	chr3:155827634-156012679	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1014755	chr3:155889430-156411894	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156008400-156010200	Active TSS	Brain Germinal Matrix	brain
2	chr3:156008400-156012200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr3:156008600-156009600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:156008600-156009600	Active TSS	Brain Substantia Nigra	brain
5	chr3:156008600-156009600	Bivalent/Poised TSS	HSMMtube	muscle
6	chr3:156008600-156009800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
7	chr3:156008600-156009800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:156008600-156010000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr3:156008600-156010000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr3:156008600-156010000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
11	chr3:156008600-156010000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
12	chr3:156008600-156010200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
13	chr3:156008600-156010200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr3:156008600-156011600	Active TSS	Brain Angular Gyrus	brain
15	chr3:156008600-156012200	Active TSS	Brain Cingulate Gyrus	brain
16	chr3:156008600-156013400	Active TSS	Brain Anterior Caudate	brain
17	chr3:156008800-156009600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:156008800-156009600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
19	chr3:156008800-156009800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:156008800-156009800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
21	chr3:156008800-156009800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:156008800-156009800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:156008800-156009800	Active TSS	Aorta	Aorta
24	chr3:156008800-156009800	Active TSS	Colon Smooth Muscle	Colon
25	chr3:156008800-156009800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
26	chr3:156008800-156009800	Bivalent/Poised TSS	Osteobl	bone
27	chr3:156008800-156010000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr3:156008800-156010000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr3:156008800-156010000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:156008800-156010000	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:156008800-156010000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr3:156008800-156010000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:156008800-156010000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:156008800-156010000	Bivalent Enhancer	Liver	Liver
35	chr3:156008800-156010000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
36	chr3:156008800-156010000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
37	chr3:156008800-156010200	Active TSS	Fetal Brain Male	brain
38	chr3:156008800-156010200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
39	chr3:156009000-156009600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:156009000-156009600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
41	chr3:156009000-156009600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr3:156009000-156009600	Bivalent Enhancer	Fetal Heart	heart
43	chr3:156009000-156009600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
44	chr3:156009000-156009600	Bivalent/Poised TSS	HSMM	muscle
45	chr3:156009000-156009800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
46	chr3:156009000-156009800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:156009000-156009800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
48	chr3:156009000-156009800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:156009000-156009800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
50	chr3:156009000-156009800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum

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