Variant report

Variant	rs1199964
Chromosome Location	chr13:37632651-37632652
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
ENSG00000120699	Chromatin interaction
ENSG00000172530	Chromatin interaction
ENSG00000120697	Chromatin interaction
ENSG00000102710	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1199957	0.82[YRI][hapmap]
rs1199967	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1199970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1208131	0.83[AMR][1000 genomes]
rs1211337	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17054769	1.00[EUR][1000 genomes]
rs17054795	1.00[EUR][1000 genomes]
rs17054796	1.00[ASW][hapmap];0.95[LWK][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17054800	0.83[AMR][1000 genomes]
rs17054804	1.00[EUR][1000 genomes]
rs17054810	1.00[EUR][1000 genomes]
rs17054831	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17054863	1.00[EUR][1000 genomes]
rs1764485	0.83[AMR][1000 genomes]
rs2323392	0.85[AFR][1000 genomes]
rs2485063	0.82[YRI][hapmap];0.83[AMR][1000 genomes]
rs28542891	0.83[AMR][1000 genomes]
rs57670680	0.83[AMR][1000 genomes]
rs58282483	0.83[AMR][1000 genomes]
rs58470119	0.83[AMR][1000 genomes]
rs7320568	1.00[ASW][hapmap];0.92[LWK][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7329124	0.83[AMR][1000 genomes]
rs7338929	0.83[YRI][hapmap]
rs7995985	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7999226	1.00[EUR][1000 genomes]
rs8000672	0.92[LWK][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8001724	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9285111	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	chr13:37617600-37632800	Weak transcription	Brain Hippocampus Middle	brain
2	chr13:37617600-37632800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr13:37617600-37632800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr13:37618000-37632800	Weak transcription	Ovary	ovary
5	chr13:37618000-37633000	Weak transcription	Spleen	Spleen
6	chr13:37618200-37633000	Weak transcription	Esophagus	oesophagus
7	chr13:37622600-37632800	Weak transcription	Placenta	Placenta
8	chr13:37624000-37632800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr13:37630600-37633000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr13:37631000-37632800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr13:37631000-37632800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr13:37631000-37632800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr13:37631000-37632800	Enhancers	Adipose Nuclei	Adipose
14	chr13:37631400-37633000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:37631600-37632800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr13:37631600-37634600	Active TSS	HSMM	muscle
17	chr13:37631600-37634800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:37631800-37634600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:37631800-37634600	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr13:37632000-37632800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr13:37632000-37633000	Enhancers	Small Intestine	intestine
22	chr13:37632000-37634600	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr13:37632200-37632800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:37632200-37632800	Enhancers	Primary B cells from cord blood	blood
25	chr13:37632200-37632800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr13:37632200-37633000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:37632200-37633000	Enhancers	Primary B cells from peripheral blood	blood
28	chr13:37632200-37633000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr13:37632200-37633000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr13:37632200-37633000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr13:37632200-37633000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr13:37632200-37633000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr13:37632200-37633000	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr13:37632200-37633000	Weak transcription	Gastric	stomach
35	chr13:37632200-37633000	Active TSS	HepG2	liver
36	chr13:37632200-37633400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr13:37632200-37633600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr13:37632200-37634200	Active TSS	H9 Cell Line	embryonic stem cell
39	chr13:37632200-37634200	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr13:37632200-37634200	Active TSS	NHLF	lung
41	chr13:37632200-37634400	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr13:37632200-37634400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:37632200-37634400	Active TSS	Fetal Intestine Small	intestine
44	chr13:37632200-37634400	Active TSS	Stomach Smooth Muscle	stomach
45	chr13:37632200-37634400	Active TSS	A549	lung
46	chr13:37632200-37634600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr13:37632200-37634600	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr13:37632200-37634600	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr13:37632200-37634600	Active TSS	Colonic Mucosa	Colon
50	chr13:37632200-37634800	Active TSS	ES-I3 Cell Line	embryonic stem cell

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