Variant report

Variant	rs7757939
Chromosome Location	chr6:37070939-37070940
allele	C/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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37069677..37071313-chr6:37076880..37078736,2	MCF-7	breast:
2	chr6:37068856..37071851-chr6:37091026..37093597,3	K562	blood:
3	chr6:37070631..37074042-chr6:37078630..37081482,4	K562	blood:
4	chr6:37068687..37073777-chr6:37134498..37141363,15	MCF-7	breast:
5	chr6:37050127..37052554-chr6:37069318..37071182,2	MCF-7	breast:
6	chr6:37069334..37071382-chr6:37103565..37107172,5	MCF-7	breast:
7	chr6:37021819..37031002-chr6:37065955..37074085,20	MCF-7	breast:
8	chr6:37070353..37072006-chr6:37094783..37097626,2	K562	blood:
9	chr6:37070177..37072965-chr6:37138030..37141701,4	K562	blood:
10	chr6:37059067..37063472-chr6:37069651..37072705,4	K562	blood:
11	chr6:37070053..37071705-chr6:37091943..37094199,2	K562	blood:
12	chr6:37068309..37074081-chr6:37136012..37144014,7	K562	blood:
13	chr6:37060206..37065655-chr6:37067548..37072519,8	K562	blood:
14	chr6:37017932..37019663-chr6:37069414..37072213,2	K562	blood:
15	chr6:37069426..37072676-chr6:37136680..37139369,3	MCF-7	breast:
16	chr6:37069927..37072668-chr6:37116873..37118423,2	K562	blood:
17	chr6:36989372..36991434-chr6:37069040..37071610,2	MCF-7	breast:
18	chr6:37070665..37072516-chr6:37086357..37088909,2	MCF-7	breast:
19	chr6:37069809..37073180-chr6:37101170..37104967,5	MCF-7	breast:
20	chr6:37070506..37072299-chr6:37108900..37111615,2	K562	blood:
21	chr6:37027276..37027962-chr6:37070724..37071719,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137193	Chromatin interaction
ENSG00000216412	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10947659	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11548576	1.00[CHB][hapmap]
rs11755152	1.00[CHB][hapmap]
rs12199978	1.00[JPT][hapmap]
rs12208423	0.88[ASN][1000 genomes]
rs12208425	0.81[ASN][1000 genomes]
rs12210148	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1224288	0.93[ASN][1000 genomes]
rs1618812	1.00[CHB][hapmap]
rs16889318	1.00[CHB][hapmap]
rs16889330	1.00[CHB][hapmap]
rs16889362	1.00[JPT][hapmap]
rs16889370	1.00[JPT][hapmap]
rs2395666	1.00[CHB][hapmap]
rs2395668	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6918039	0.93[ASN][1000 genomes]
rs9462263	0.88[ASN][1000 genomes]
rs9462264	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9462265	0.88[ASN][1000 genomes]
rs9470455	1.00[CHB][hapmap]
rs9470466	1.00[CHB][hapmap]
rs9470472	1.00[CHB][hapmap]
rs9470488	0.88[ASN][1000 genomes]
rs9470491	0.81[ASN][1000 genomes]
rs9470493	1.00[JPT][hapmap]
rs9470505	0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7757939	PI16	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37063600-37071000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:37064200-37071200	Weak transcription	Small Intestine	intestine
3	chr6:37069000-37072000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:37069600-37071400	Enhancers	Spleen	Spleen
5	chr6:37069600-37071400	Flanking Active TSS	Dnd41	blood
6	chr6:37069800-37071000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:37069800-37071200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr6:37069800-37071400	Flanking Active TSS	NHLF	lung
9	chr6:37069800-37071600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:37069800-37071600	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr6:37069800-37071800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:37069800-37071800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr6:37069800-37071800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr6:37069800-37071800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:37069800-37071800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:37069800-37071800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:37069800-37071800	Flanking Active TSS	Hela-S3	cervix
18	chr6:37069800-37071800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr6:37070000-37071000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr6:37070000-37071000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:37070000-37071000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr6:37070000-37071000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr6:37070000-37071000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr6:37070000-37071000	Flanking Active TSS	Fetal Lung	lung
25	chr6:37070000-37071200	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr6:37070000-37071200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr6:37070000-37071200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr6:37070000-37071200	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr6:37070000-37071200	Flanking Active TSS	Fetal Stomach	stomach
30	chr6:37070000-37071200	Flanking Active TSS	NH-A	brain
31	chr6:37070000-37071200	Flanking Active TSS	NHEK	skin
32	chr6:37070000-37071400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:37070000-37071400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr6:37070000-37071400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr6:37070000-37071400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:37070000-37071400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:37070000-37071400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr6:37070000-37071400	Active TSS	Fetal Kidney	kidney
39	chr6:37070000-37071400	Flanking Active TSS	Osteobl	bone
40	chr6:37070000-37071600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:37070000-37071600	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr6:37070000-37071600	Flanking Active TSS	HSMMtube	muscle
43	chr6:37070000-37071800	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr6:37070000-37071800	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr6:37070000-37071800	Flanking Active TSS	Colonic Mucosa	Colon
46	chr6:37070000-37071800	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr6:37070000-37071800	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr6:37070000-37071800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr6:37070000-37071800	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr6:37070000-37071800	Flanking Active TSS	K562	blood

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