Variant report

Variant	rs11878398
Chromosome Location	chr19:37999331-37999332
allele	G/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:1)
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	chr19:37999281-37999331	CMK	blood:	n/a
2	chr19:37999281-37999331	SK-N-SH	brain:	n/a
3	chr19:37999281-37999331	AG09319	gingival:	n/a
4	chr19:37999281-37999331	GM12892	blood:	n/a
5	chr19:37999281-37999331	K562	blood:	n/a
6	chr19:37999281-37999331	MCF10A-Er-Src	breast:	n/a
7	chr19:37999281-37999331	BJ	skin:	n/a
8	chr19:37999281-37999331	PrEC	prostate:	n/a
9	chr19:37999281-37999331	NB4	blood:	n/a
10	chr19:37999281-37999331	Hela-S3	cervix:	n/a
11	chr19:37999281-37999331	HEK293	kidney:	embryo
12	chr19:37999281-37999331	Hepatocyte	liver:	n/a
13	chr19:37999281-37999331	HMEC	breast:	n/a
14	chr19:37999281-37999331	HCM	heart:	n/a
15	chr19:37999281-37999331	RPTEC	kidney:	n/a
16	chr19:37999281-37999331	NT2-D1	testis:	n/a
17	chr19:37999281-37999331	HPAEpiC	pulmonary alveolar:	n/a
18	chr19:37999281-37999331	HepG2	liver:	n/a
19	chr19:37999281-37999331	NHDF-neo	bronchial:	n/a
20	chr19:37999281-37999331	SK-N-SH_RA	brain:	n/a
21	chr19:37999281-37999331	HL-60	blood:	n/a
22	chr19:37999281-37999331	HCPEpiC	choroid plexus:	n/a
23	chr19:37999281-37999331	NHBE	bronchial:	n/a
24	chr19:37999281-37999331	HIPEpiC	eye:	n/a
25	chr19:37999281-37999331	MCF-7	breast:	n/a
26	chr19:37999281-37999331	NH-A	brain:	n/a
27	chr19:37999281-37999331	GM06990	blood:	n/a
28	chr19:37999281-37999331	HNPCEpiC	eye:	n/a
29	chr19:37999281-37999331	SKMC	muscle:	n/a
30	chr19:37999281-37999331	ECC-1	luminal epithelium:	n/a
31	chr19:37999281-37999331	IMR90	lung:	fetal
32	chr19:37999281-37999331	HCF	heart:	n/a
33	chr19:37999281-37999331	T-47D	breast:	n/a
34	chr19:37999281-37999331	AG04449	skin:	fetal
35	chr19:37999281-37999331	BE2_C	brain:	n/a
36	chr19:37999281-37999331	A549	lung:	n/a
37	chr19:37999281-37999331	HRPEpiC	eye:	n/a
38	chr19:37999281-37999331	HRE	kidney:	n/a
39	chr19:37999281-37999331	ovcar-3	ovarian:	n/a
40	chr19:37999281-37999331	GM12878	blood:	n/a
41	chr19:37999281-37999331	AG04450	lung:	fetal
42	chr19:37999281-37999331	SAEC	small airway:	n/a
43	chr19:37999281-37999331	GM12891	blood:	n/a
44	chr19:37999281-37999331	AG09309	skin:	n/a
45	chr19:37999281-37999331	PFSK-1	brain:	n/a
46	chr19:37999281-37999331	LNCaP	prostate:	n/a
47	chr19:37999281-37999331	HCT-116	colon:	n/a
48	chr19:37999281-37999331	AoSMC	blood vessel:	n/a
49	chr19:37999281-37999331	HUVEC	blood vessel:	n/a
50	chr19:37999281-37999331	HEEpiC	esophagus:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37957751..37961901-chr19:37996099..37999727,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267115	CpG island
ENSG00000266916	CpG island
ENSG00000196437	Chromatin interaction
ENSG00000171827	Chromatin interaction

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

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

rs_ID	r²[population]
rs11670245	1.00[GIH][hapmap]

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	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1056753	chr19:37963714-38015943	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37996400-37999400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr19:37996400-37999400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr19:37996600-37999400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr19:37997000-37999400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:37998000-37999600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:37998400-37999400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:37998400-38004800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:37998600-37999800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:37998600-38000400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr19:37998600-38000400	Weak transcription	Left Ventricle	heart
11	chr19:37998600-38001400	Weak transcription	Colonic Mucosa	Colon
12	chr19:37998600-38002400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:37998600-38002600	Weak transcription	Spleen	Spleen
14	chr19:37998600-38003200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr19:37998600-38003800	Weak transcription	Placenta	Placenta
16	chr19:37998600-38004200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr19:37998600-38004800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:37998600-38005200	Weak transcription	Psoas Muscle	Psoas
19	chr19:37998600-38008400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr19:37998800-37999400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:37998800-37999600	Enhancers	Fetal Brain Male	brain
22	chr19:37998800-37999800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr19:37998800-37999800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr19:37998800-38000000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr19:37998800-38000000	Weak transcription	Ovary	ovary
26	chr19:37998800-38000400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr19:37998800-38000600	Weak transcription	Fetal Stomach	stomach
28	chr19:37998800-38000800	Weak transcription	Fetal Intestine Large	intestine
29	chr19:37998800-38001200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr19:37998800-38002000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr19:37998800-38002000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr19:37998800-38002200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr19:37998800-38002200	Weak transcription	Aorta	Aorta
34	chr19:37998800-38002200	Weak transcription	Pancreas	Pancrea
35	chr19:37998800-38002400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr19:37998800-38002600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:37998800-38003800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr19:37998800-38006200	Weak transcription	Esophagus	oesophagus
39	chr19:37998800-38010800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:37998800-38014000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr19:37998800-38021000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:37998800-38022600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr19:37999000-37999400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:37999000-37999400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr19:37999000-37999800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:37999000-38000000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:37999000-38000200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:37999000-38000600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:37999000-38000600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr19:37999000-38001400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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