Variant report

Variant	rs8106210
Chromosome Location	chr19:36629631-36629632
allele	C/T
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:8)
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	chr19:36629608-36629658	HCT-116	colon:	n/a
2	chr19:36629608-36629658	AG04449	skin:	fetal
3	chr19:36629608-36629658	BJ	skin:	n/a
4	chr19:36629608-36629658	GM06990	blood:	n/a
5	chr19:36629608-36629658	H1-hESC	embryonic stem cell:	embryo
6	chr19:36629608-36629658	SAEC	small airway:	n/a
7	chr19:36629608-36629658	GM12878	blood:	n/a
8	chr19:36629608-36629658	HepG2	liver:	n/a
9	chr19:36629608-36629658	BE2_C	brain:	n/a
10	chr19:36629608-36629658	NHDF-neo	bronchial:	n/a
11	chr19:36629608-36629658	AG10803	skin:	n/a
12	chr19:36629608-36629658	A549	lung:	n/a
13	chr19:36629608-36629658	HCF	heart:	n/a
14	chr19:36629608-36629658	NHBE	bronchial:	n/a
15	chr19:36629608-36629658	RPTEC	kidney:	n/a
16	chr19:36629608-36629658	AoSMC	blood vessel:	n/a
17	chr19:36629608-36629658	MCF-7	breast:	n/a
18	chr19:36629608-36629658	HAEpiC	amniotic membrane:	n/a
19	chr19:36629608-36629658	SKMC	muscle:	n/a
20	chr19:36629608-36629658	T-47D	breast:	n/a
21	chr19:36629608-36629658	CMK	blood:	n/a
22	chr19:36629608-36629658	HPAEpiC	pulmonary alveolar:	n/a
23	chr19:36629608-36629658	NB4	blood:	n/a
24	chr19:36629608-36629658	K562	blood:	n/a
25	chr19:36629608-36629658	IMR90	lung:	fetal
26	chr19:36629608-36629658	HRPEpiC	eye:	n/a
27	chr19:36629608-36629658	Hepatocyte	liver:	n/a
28	chr19:36629608-36629658	SK-N-MC	brain:	n/a
29	chr19:36629608-36629658	GM12891	blood:	n/a
30	chr19:36629608-36629658	GM19239	blood:	n/a
31	chr19:36629608-36629658	HEK293	kidney:	embryo
32	chr19:36629608-36629658	Hela-S3	cervix:	n/a
33	chr19:36629608-36629658	HMEC	breast:	n/a
34	chr19:36629608-36629658	U87	brain:	n/a
35	chr19:36629608-36629658	PrEC	prostate:	n/a
36	chr19:36629608-36629658	NT2-D1	testis:	n/a
37	chr19:36629608-36629658	PANC-1	pancreas:	n/a
38	chr19:36629608-36629658	AG09309	skin:	n/a
39	chr19:36629608-36629658	MCF10A-Er-Src	breast:	n/a
40	chr19:36629608-36629658	SK-N-SH	brain:	n/a
41	chr19:36629608-36629658	HRCEpiC	kidney:	n/a
42	chr19:36629608-36629658	AG09319	gingival:	n/a
43	chr19:36629608-36629658	HL-60	blood:	n/a
44	chr19:36629608-36629658	GM12892	blood:	n/a
45	chr19:36629608-36629658	Caco-2	colon:	n/a
46	chr19:36629608-36629658	ECC-1	luminal epithelium:	n/a
47	chr19:36629608-36629658	AG04450	lung:	fetal
48	chr19:36629608-36629658	HEEpiC	esophagus:	n/a
49	chr19:36629608-36629658	HRE	kidney:	n/a
50	chr19:36629608-36629658	HCM	heart:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36605008..36606623-chr19:36627761..36629746,2	K562	blood:
2	chr19:36629391..36631341-chr19:38851035..38853209,2	MCF-7	breast:
3	chr19:36629161..36631921-chr19:37341375..37343285,2	MCF-7	breast:
4	chr19:36604617..36608522-chr19:36628102..36632329,9	MCF-7	breast:
5	chr19:36629466..36631434-chr19:38753724..38756328,2	MCF-7	breast:
6	chr19:36604314..36608037-chr19:36629557..36633745,12	MCF-7	breast:
7	chr19:36628146..36630638-chr19:37017222..37019646,2	K562	blood:
8	chr19:36604594..36608993-chr19:36628830..36633466,13	K562	blood:

No data

Variant related genes	Relation type
CAPNS1	CpG island
ENSG00000254004	Chromatin interaction
ENSG00000105254	Chromatin interaction
ENSG00000197863	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000228629	Chromatin interaction
ENSG00000266963	Chromatin interaction
ENSG00000105258	Chromatin interaction
ENSG00000251247	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4806295	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv911642	chr19:36620778-36651499	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv911643	chr19:36627790-36651499	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv911644	chr19:36628463-36643695	Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv911645	chr19:36628463-36651499	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv911646	chr19:36629631-36643695	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv911647	chr19:36629631-36651499	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36619600-36630200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:36619800-36630000	Weak transcription	Fetal Thymus	thymus
3	chr19:36619800-36630200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr19:36622600-36629800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:36623600-36630200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr19:36623600-36630200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr19:36623800-36630400	Weak transcription	Lung	lung
8	chr19:36624000-36630200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:36624200-36630200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr19:36624600-36630000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:36626600-36630200	Weak transcription	Right Ventricle	heart
12	chr19:36626600-36630400	Weak transcription	Esophagus	oesophagus
13	chr19:36626600-36630400	Weak transcription	Gastric	stomach
14	chr19:36628000-36630000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:36628000-36630000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:36628000-36630000	Enhancers	HMEC	breast
17	chr19:36628000-36630200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr19:36628000-36630200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr19:36628000-36630200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr19:36628000-36630200	Weak transcription	Left Ventricle	heart
21	chr19:36628000-36630400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr19:36628200-36630000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr19:36628200-36630200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr19:36628200-36630200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr19:36628200-36630200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:36628200-36630200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:36628200-36630200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr19:36628200-36630200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:36628200-36630200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr19:36628200-36630200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:36628200-36630200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr19:36628200-36630200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:36628200-36630200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:36628200-36630200	Weak transcription	Adipose Nuclei	Adipose
35	chr19:36628200-36630200	Weak transcription	Liver	Liver
36	chr19:36628200-36630200	Weak transcription	Brain Hippocampus Middle	brain
37	chr19:36628200-36630200	Weak transcription	Colonic Mucosa	Colon
38	chr19:36628200-36630200	Weak transcription	Colon Smooth Muscle	Colon
39	chr19:36628200-36630200	Weak transcription	Fetal Intestine Large	intestine
40	chr19:36628200-36630200	Weak transcription	Placenta	Placenta
41	chr19:36628200-36630200	Weak transcription	Pancreas	Pancrea
42	chr19:36628200-36630200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr19:36628200-36630200	Weak transcription	Psoas Muscle	Psoas
44	chr19:36628200-36630200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr19:36628200-36630200	Weak transcription	Right Atrium	heart
46	chr19:36628200-36630200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr19:36628200-36630200	Enhancers	Hela-S3	cervix
48	chr19:36628200-36630200	Weak transcription	HSMM	muscle
49	chr19:36628200-36630200	Weak transcription	HSMMtube	muscle
50	chr19:36628200-36630200	Weak transcription	K562	blood

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