Variant report

Variant	rs7751883
Chromosome Location	chr6:37022663-37022664
allele	A/C
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37013215..37030579-chr6:37135643..37146812,60	K562	blood:
2	chr6:37021489..37023071-chr6:37031625..37033858,2	K562	blood:
3	chr6:37013215..37030665-chr6:37134901..37148307,66	K562	blood:
4	chr6:37022535..37025870-chr6:37027364..37029356,3	K562	blood:
5	chr6:37021556..37023509-chr6:37110976..37113167,2	MCF-7	breast:
6	chr6:37021819..37031002-chr6:37065955..37074085,20	MCF-7	breast:
7	chr6:37014868..37029815-chr6:37135131..37143827,44	MCF-7	breast:
8	chr6:37016328..37032410-chr6:37132402..37145966,91	MCF-7	breast:
9	chr6:37015361..37021664-chr6:37022049..37027809,14	K562	blood:
10	chr6:37021501..37023622-chr6:37068699..37070344,2	K562	blood:
11	chr6:37005187..37007836-chr6:37021665..37024066,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137193	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10947654	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10947655	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1224492	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1224493	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1724092	0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1724093	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1753297	0.95[CHB][hapmap];0.98[CHD][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1753299	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2692878	0.83[ASN][1000 genomes]
rs2692879	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4714033	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6457968	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6457969	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6457970	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6917839	0.95[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6922840	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6940573	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6940597	0.85[ASN][1000 genomes]
rs7752115	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs831481	0.91[CHB][hapmap];0.86[CHD][hapmap]
rs831482	0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs831483	0.95[CHB][hapmap];0.98[CHD][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs831485	0.90[ASN][1000 genomes]
rs831486	0.95[CHB][hapmap];0.98[CHD][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.90[ASN][1000 genomes]
rs831488	0.83[ASN][1000 genomes]
rs831490	0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs831508	0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs864396	0.95[CHB][hapmap];0.98[CHD][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs864590	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs913502	0.83[ASN][1000 genomes]
rs9357233	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9380636	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9380637	0.82[GIH][hapmap]
rs9394399	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9765964	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv518386	chr6:36942746-37037670	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7751883	KCNK16	cis	parietal	SCAN
rs7751883	PIM1	cis	lymphoblastoid	seeQTL
rs7751883	SRSF3	cis	parietal	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37017200-37027200	Weak transcription	NH-A	brain
2	chr6:37019600-37025800	Weak transcription	HSMM	muscle
3	chr6:37019800-37022800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:37019800-37023000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:37019800-37023800	Weak transcription	Gastric	stomach
6	chr6:37019800-37025600	Weak transcription	NHDF-Ad	bronchial
7	chr6:37019800-37026000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:37019800-37027000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr6:37019800-37027200	Weak transcription	Brain Germinal Matrix	brain
10	chr6:37019800-37027200	Weak transcription	Lung	lung
11	chr6:37019800-37027200	Weak transcription	Ovary	ovary
12	chr6:37019800-37027200	Weak transcription	Right Atrium	heart
13	chr6:37020000-37022800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:37020000-37023000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:37020000-37023400	Weak transcription	Fetal Heart	heart
16	chr6:37020000-37023800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr6:37020000-37025400	Weak transcription	Pancreas	Pancrea
18	chr6:37020000-37027200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr6:37020200-37022800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:37020200-37023000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:37020200-37023200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr6:37020200-37023600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr6:37020200-37023800	Weak transcription	Hela-S3	cervix
24	chr6:37020200-37025400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr6:37020200-37027000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:37020200-37027000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr6:37020200-37027200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr6:37020200-37027200	Weak transcription	Spleen	Spleen
29	chr6:37020400-37022800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr6:37020400-37022800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:37020400-37023000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr6:37020400-37023000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:37020400-37023000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:37020400-37023000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr6:37020400-37023000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:37020400-37023000	Weak transcription	Fetal Muscle Leg	muscle
37	chr6:37020400-37023200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr6:37020400-37023600	Weak transcription	Primary B cells from cord blood	blood
39	chr6:37020400-37023800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:37020400-37023800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr6:37020400-37023800	Weak transcription	Placenta	Placenta
42	chr6:37020400-37024000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr6:37020400-37027000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:37020400-37027200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:37020400-37027200	Enhancers	HepG2	liver
46	chr6:37020400-37027400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:37020600-37022800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:37020600-37023000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr6:37021000-37024000	Enhancers	K562	blood
50	chr6:37021400-37026600	Weak transcription	Fetal Intestine Small	intestine

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