Variant report

Variant	rs7752959
Chromosome Location	chr6:30750682-30750683
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30583409..30587215-chr6:30748473..30750740,4	K562	blood:
2	chr6:30748758..30751430-chr6:30850690..30852588,5	MCF-7	breast:
3	chr6:30613838..30616795-chr6:30748344..30751338,2	K562	blood:
4	chr6:30750359..30753448-chr6:30757734..30761171,4	MCF-7	breast:
5	chr6:30750458..30752219-chr6:30756523..30759247,2	MCF-7	breast:
6	chr6:30685130..30687169-chr6:30748703..30751412,3	K562	blood:
7	chr6:30749778..30751326-chr6:30778307..30780023,3	MCF-7	breast:
8	chr6:27100755..27102737-chr6:30749085..30751315,2	K562	blood:
9	chr6:30710424..30713995-chr6:30746295..30752430,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137331	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000266183	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000137337	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13197397	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13210977	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3130671	0.89[ASN][1000 genomes]
rs3130672	0.89[ASN][1000 genomes]
rs9295913	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468829	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9468834	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
6	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
7	nsv884100	chr6:30693816-30751326	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
8	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
9	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
10	nsv870418	chr6:30713196-30755668	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv527226	chr6:30716719-30772378	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv884103	chr6:30729487-30755668	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	nsv884104	chr6:30740680-30753146	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7752959	NKAPL	cis	cerebellum	SCAN
rs7752959	UNC13B	trans	lymphoblastoid	seeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30744000-30758000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr6:30746000-30750800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr6:30746000-30750800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr6:30746000-30751000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr6:30746000-30752400	Enhancers	Placenta	Placenta
6	chr6:30746200-30751400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:30746600-30751000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr6:30746800-30751200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:30747000-30751400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:30747200-30751000	Enhancers	Right Ventricle	heart
11	chr6:30747400-30751000	Enhancers	NHLF	lung
12	chr6:30748200-30751400	Enhancers	Liver	Liver
13	chr6:30748200-30753800	Weak transcription	Primary T cells from cord blood	blood
14	chr6:30748600-30750800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr6:30748800-30751000	Enhancers	Primary B cells from cord blood	blood
16	chr6:30748800-30751400	Enhancers	Fetal Intestine Small	intestine
17	chr6:30748800-30751400	Flanking Active TSS	Hela-S3	cervix
18	chr6:30749000-30750800	Enhancers	Small Intestine	intestine
19	chr6:30749000-30751200	Flanking Active TSS	HepG2	liver
20	chr6:30749200-30750800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr6:30749400-30750800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:30749400-30761200	Weak transcription	Lung	lung
23	chr6:30749800-30750800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:30749800-30750800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:30749800-30750800	Enhancers	Adipose Nuclei	Adipose
26	chr6:30749800-30751000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr6:30749800-30755800	Weak transcription	Right Atrium	heart
28	chr6:30749800-30757000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:30750000-30750800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:30750000-30751400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:30750000-30753000	Weak transcription	Dnd41	blood
32	chr6:30750000-30753400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr6:30750000-30753800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr6:30750000-30754200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr6:30750000-30756000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr6:30750200-30750800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:30750200-30750800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr6:30750200-30750800	Enhancers	NH-A	brain
39	chr6:30750200-30751000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:30750200-30751000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:30750200-30751000	Enhancers	Fetal Muscle Leg	muscle
42	chr6:30750200-30751200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:30750200-30751200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:30750200-30751200	Enhancers	Colonic Mucosa	Colon
45	chr6:30750200-30753000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr6:30750200-30754000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:30750400-30750800	Enhancers	Duodenum Mucosa	Duodenum
48	chr6:30750400-30750800	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr6:30750400-30750800	Enhancers	GM12878-XiMat	blood
50	chr6:30750400-30750800	Enhancers	HSMM	muscle

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