Variant report

Variant	rs1199965
Chromosome Location	chr13:37632473-37632474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr13:37573339..37577948-chr13:37631578..37635345,7	K562	blood:
2	chr13:37572711..37577948-chr13:37631792..37635345,6	K562	blood:
3	chr13:37583600..37585268-chr13:37630983..37633485,2	MCF-7	breast:
4	chr13:37631915..37634175-chr16:87992203..87994742,2	MCF-7	breast:
5	chr13:37631468..37633109-chr13:37642109..37643855,2	K562	blood:
6	chr13:37573411..37578166-chr13:37631570..37635674,7	MCF-7	breast:
7	chr13:37623154..37627284-chr13:37630471..37633979,5	MCF-7	breast:
8	chr13:37572134..37576910-chr13:37632372..37635841,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000120697	Chromatin interaction
ENSG00000172530	Chromatin interaction
ENSG00000102710	Chromatin interaction
ENSG00000120699	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10507444	0.82[AFR][1000 genomes]
rs1199957	0.95[AFR][1000 genomes]
rs1199961	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1199971	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1199973	0.90[AFR][1000 genomes]
rs1208131	0.83[AFR][1000 genomes]
rs1627791	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17054770	0.82[AFR][1000 genomes]
rs17054775	0.81[AFR][1000 genomes]
rs1764485	0.81[AFR][1000 genomes]
rs2485063	0.95[AFR][1000 genomes]
rs28542891	0.87[AFR][1000 genomes]
rs57549356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57670680	0.85[AFR][1000 genomes]
rs58282483	0.83[AFR][1000 genomes]
rs58470119	0.83[AFR][1000 genomes]
rs7329124	0.89[AFR][1000 genomes]

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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3377840	chr13:37631001-37656330	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37613600-37632600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:37617600-37632600	Weak transcription	Brain Substantia Nigra	brain
3	chr13:37617600-37632800	Weak transcription	Brain Hippocampus Middle	brain
4	chr13:37617600-37632800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr13:37617600-37632800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr13:37618000-37632600	Weak transcription	Thymus	Thymus
7	chr13:37618000-37632800	Weak transcription	Ovary	ovary
8	chr13:37618000-37633000	Weak transcription	Spleen	Spleen
9	chr13:37618200-37632600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:37618200-37633000	Weak transcription	Esophagus	oesophagus
11	chr13:37622600-37632800	Weak transcription	Placenta	Placenta
12	chr13:37624000-37632800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr13:37630600-37633000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr13:37631000-37632600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr13:37631000-37632600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr13:37631000-37632800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr13:37631000-37632800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr13:37631000-37632800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr13:37631000-37632800	Enhancers	Adipose Nuclei	Adipose
20	chr13:37631200-37632600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr13:37631200-37632600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr13:37631400-37632600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr13:37631400-37633000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:37631600-37632600	Enhancers	Fetal Muscle Trunk	muscle
25	chr13:37631600-37632600	Enhancers	Fetal Muscle Leg	muscle
26	chr13:37631600-37632600	Enhancers	Right Ventricle	heart
27	chr13:37631600-37632800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr13:37631600-37634600	Active TSS	HSMM	muscle
29	chr13:37631600-37634800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:37631800-37632600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr13:37631800-37632600	Enhancers	Fetal Thymus	thymus
32	chr13:37631800-37632600	Enhancers	Psoas Muscle	Psoas
33	chr13:37631800-37634600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:37631800-37634600	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr13:37632000-37632600	Enhancers	Liver	Liver
36	chr13:37632000-37632600	Enhancers	Fetal Heart	heart
37	chr13:37632000-37632800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr13:37632000-37633000	Enhancers	Small Intestine	intestine
39	chr13:37632000-37634600	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr13:37632200-37632600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr13:37632200-37632600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr13:37632200-37632600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr13:37632200-37632600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr13:37632200-37632600	Enhancers	Primary T cells from cord blood	blood
45	chr13:37632200-37632600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr13:37632200-37632600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr13:37632200-37632600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr13:37632200-37632600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr13:37632200-37632600	Enhancers	Brain Anterior Caudate	brain
50	chr13:37632200-37632600	Active TSS	Pancreatic Islets	Pancreatic Islet

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