Variant report

Variant	rs6758667
Chromosome Location	chr2:47315956-47315957
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47314295..47316142-chr2:47551772..47554703,2	K562	blood:
2	chr2:47312009..47319415-chr2:47398595..47405362,13	K562	blood:
3	chr2:47308385..47311551-chr2:47313858..47316379,4	MCF-7	breast:
4	chr2:47315686..47318027-chr2:47401019..47403152,4	K562	blood:
5	chr2:47303169..47307562-chr2:47312603..47317235,6	MCF-7	breast:
6	chr2:47305124..47307804-chr2:47314133..47316358,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10865215	0.94[AMR][1000 genomes]
rs13033168	0.87[CEU][hapmap]
rs1474394	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4953460	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4953462	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58120873	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv2716	chr2:47312166-47336600	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv457374	chr2:47313624-47448865	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
8	nsv581754	chr2:47313624-47448865	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6758667	KLRAQ1	cis	parietal	SCAN

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47307200-47323000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:47307400-47316200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:47307600-47316000	Weak transcription	NHDF-Ad	bronchial
4	chr2:47309800-47317800	Enhancers	Fetal Muscle Trunk	muscle
5	chr2:47310000-47316600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:47310000-47318600	Enhancers	Fetal Muscle Leg	muscle
7	chr2:47310200-47317200	Enhancers	Left Ventricle	heart
8	chr2:47310400-47318800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:47310600-47317400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:47310800-47319200	Enhancers	Fetal Lung	lung
11	chr2:47310800-47319200	Enhancers	HUVEC	blood vessel
12	chr2:47311200-47316000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:47311200-47317200	Enhancers	Spleen	Spleen
14	chr2:47311400-47318600	Weak transcription	Liver	Liver
15	chr2:47311600-47317000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:47311800-47316600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:47312600-47316600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:47312800-47316600	Enhancers	Right Ventricle	heart
19	chr2:47313000-47317200	Enhancers	Fetal Intestine Small	intestine
20	chr2:47313000-47317800	Enhancers	Lung	lung
21	chr2:47313400-47317000	Enhancers	Fetal Intestine Large	intestine
22	chr2:47313600-47316000	Weak transcription	Colonic Mucosa	Colon
23	chr2:47313600-47316200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:47313600-47317200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr2:47313800-47316200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr2:47313800-47316200	Weak transcription	Fetal Thymus	thymus
27	chr2:47313800-47316600	Enhancers	Adipose Nuclei	Adipose
28	chr2:47314000-47318400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:47314200-47318600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:47314400-47316000	Weak transcription	HSMMtube	muscle
31	chr2:47314400-47316800	Weak transcription	Fetal Kidney	kidney
32	chr2:47314600-47320000	Weak transcription	Pancreas	Pancrea
33	chr2:47314800-47316200	Weak transcription	Psoas Muscle	Psoas
34	chr2:47315200-47316400	Enhancers	Colon Smooth Muscle	Colon
35	chr2:47315200-47316600	Enhancers	Ovary	ovary
36	chr2:47315200-47316800	Enhancers	Stomach Mucosa	stomach
37	chr2:47315200-47317000	Enhancers	HepG2	liver
38	chr2:47315200-47319200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:47315400-47316000	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr2:47315400-47316200	Enhancers	Primary hematopoietic stem cells	blood
41	chr2:47315400-47316600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:47315400-47316600	Enhancers	NHLF	lung
43	chr2:47315400-47317200	Enhancers	Placenta	Placenta
44	chr2:47315400-47317200	Enhancers	Fetal Stomach	stomach
45	chr2:47315400-47317400	Enhancers	Fetal Heart	heart
46	chr2:47315600-47316000	Enhancers	Brain Germinal Matrix	brain
47	chr2:47315600-47316000	Enhancers	Brain Substantia Nigra	brain
48	chr2:47315600-47316200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:47315600-47316200	Enhancers	Brain Angular Gyrus	brain
50	chr2:47315600-47316200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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