Variant report

Variant	rs2252845
Chromosome Location	chr6:30592205-30592206
allele	G/T
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30591945..30594693-chr6:30703860..30706448,2	K562	blood:
2	chr6:30590937..30593693-chr6:30609375..30612097,3	MCF-7	breast:
3	chr6:30591157..30598732-chr6:30607879..30619621,21	K562	blood:
4	chr6:30591212..30593070-chr6:30654057..30656652,2	MCF-7	breast:
5	chr6:30590782..30598373-chr6:30685661..30690473,13	MCF-7	breast:
6	chr6:30591444..30595401-chr6:30685466..30689259,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPS18B-1	chr6:30592022-30592367	NONHSAT108654

No data

Variant related genes	Relation type
ENSG00000266183	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000137343	Chromatin interaction
ENSG00000146112	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000201988	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1264422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1264430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1264442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs14350	1.00[EUR][1000 genomes]
rs17195432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2394393	1.00[EUR][1000 genomes]
rs2429643	1.00[EUR][1000 genomes]
rs2517562	1.00[EUR][1000 genomes]
rs2517563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2517567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2534688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2844707	1.00[EUR][1000 genomes]
rs3094103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094107	1.00[EUR][1000 genomes]
rs3129999	1.00[EUR][1000 genomes]
rs3130674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3130675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3132593	1.00[AMR][1000 genomes]
rs34377509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9262167	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30586400-30592600	Weak transcription	Aorta	Aorta
2	chr6:30586400-30594200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:30586400-30594600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:30586600-30594400	Weak transcription	Right Atrium	heart
5	chr6:30586600-30594600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:30586800-30594400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:30587000-30593600	Strong transcription	Fetal Muscle Leg	muscle
8	chr6:30587000-30594000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:30587000-30594000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:30587000-30594000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr6:30587000-30594000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr6:30587000-30594000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:30587000-30594000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:30587000-30594200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:30587000-30594200	Strong transcription	Osteobl	bone
16	chr6:30587000-30594400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:30587200-30592400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:30587200-30593400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:30587200-30593800	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr6:30587200-30593800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr6:30587200-30593800	Strong transcription	HSMMtube	muscle
22	chr6:30587200-30594000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:30587200-30594000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:30587200-30594000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:30587200-30594000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:30587200-30594000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:30587200-30594000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:30587200-30594000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:30587200-30594000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:30587200-30594000	Strong transcription	Brain Angular Gyrus	brain
31	chr6:30587200-30594000	Strong transcription	Brain Anterior Caudate	brain
32	chr6:30587200-30594000	Strong transcription	Brain Cingulate Gyrus	brain
33	chr6:30587200-30594000	Strong transcription	Brain Hippocampus Middle	brain
34	chr6:30587200-30594000	Strong transcription	Brain Substantia Nigra	brain
35	chr6:30587200-30594000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr6:30587200-30594000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr6:30587200-30594000	Strong transcription	Placenta	Placenta
38	chr6:30587200-30594000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr6:30587200-30594000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr6:30587200-30594200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr6:30587200-30594200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:30587200-30594200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:30587400-30593400	Strong transcription	K562	blood
44	chr6:30587400-30593600	Strong transcription	Fetal Intestine Small	intestine
45	chr6:30587400-30593600	Strong transcription	A549	lung
46	chr6:30587400-30593800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
47	chr6:30587400-30593800	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr6:30587400-30593800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:30587400-30593800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:30587400-30593800	Strong transcription	Cortex derived primary cultured neurospheres	brain

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