Variant report

Variant	rs2076173
Chromosome Location	chr6:35442397-35442398
allele	C/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:34538773..34541747-chr6:35441442..35443633,2	K562	blood:
2	chr6:35440922..35443535-chr6:35489068..35490645,2	K562	blood:
3	chr6:35441082..35443113-chr6:35703607..35706481,2	K562	blood:
4	chr6:35441574..35443877-chr6:35520480..35522030,2	K562	blood:
5	chr6:35259275..35263852-chr6:35441869..35446640,5	K562	blood:
6	chr6:35441446..35443252-chr6:35497731..35499331,2	K562	blood:
7	chr6:35231213..35234012-chr6:35440944..35442482,2	K562	blood:
8	chr6:35429000..35431728-chr6:35441899..35443827,3	K562	blood:
9	chr6:35260730..35269335-chr6:35433870..35444063,22	MCF-7	breast:
10	chr6:35418658..35421546-chr6:35440931..35443702,2	K562	blood:
11	chr6:35309030..35311624-chr6:35440652..35443550,3	K562	blood:
12	chr6:35237573..35240091-chr6:35439792..35442859,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112033	Chromatin interaction
ENSG00000157343	Chromatin interaction
ENSG00000112039	Chromatin interaction
ENSG00000065029	Chromatin interaction
ENSG00000232909	Chromatin interaction
ENSG00000023892	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1016146	1.00[YRI][hapmap]
rs11962335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800377	1.00[YRI][hapmap]
rs4713859	0.81[JPT][hapmap]
rs760782	1.00[YRI][hapmap]
rs7739148	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7757405	0.93[YRI][hapmap]
rs9394298	0.89[AMR][1000 genomes]
rs9394299	0.92[CEU][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.80[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9462091	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528351	chr6:35377922-35465786	Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
2	nsv885799	chr6:35378778-35442397	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
3	nsv462908	chr6:35378778-35457396	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv602910	chr6:35378778-35457396	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
6	nsv984463	chr6:35432948-35477634	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2076173	RPL10A	cis	cerebellum	SCAN
rs2076173	RPL10A	cis	parietal	SCAN
rs2076173	TAF11	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35437600-35449200	Strong transcription	Aorta	Aorta
2	chr6:35437800-35443800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:35437800-35446200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:35437800-35451000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr6:35438000-35443200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:35438000-35455800	Weak transcription	Brain Angular Gyrus	brain
7	chr6:35438200-35442400	Genic enhancers	Fetal Muscle Leg	muscle
8	chr6:35438200-35442600	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr6:35438200-35444200	Strong transcription	Thymus	Thymus
10	chr6:35438200-35458000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:35438400-35442400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr6:35438400-35442800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:35438400-35443600	Strong transcription	Esophagus	oesophagus
14	chr6:35438400-35449600	Strong transcription	Gastric	stomach
15	chr6:35438800-35443400	Strong transcription	Primary T cells from cord blood	blood
16	chr6:35438800-35444200	Strong transcription	Brain Germinal Matrix	brain
17	chr6:35438800-35448200	Strong transcription	Right Ventricle	heart
18	chr6:35439000-35442800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:35439200-35443400	Strong transcription	Fetal Thymus	thymus
20	chr6:35439200-35445000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:35439200-35447600	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:35439200-35447600	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:35439200-35447800	Strong transcription	Colonic Mucosa	Colon
24	chr6:35439200-35448200	Strong transcription	Lung	lung
25	chr6:35439200-35452400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:35439200-35452600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:35439200-35453000	Weak transcription	Fetal Kidney	kidney
28	chr6:35439400-35452600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr6:35439600-35443000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:35439800-35442800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:35439800-35443400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:35439800-35443800	Strong transcription	NH-A	brain
33	chr6:35439800-35444200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:35439800-35444600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:35439800-35452600	Strong transcription	Fetal Intestine Small	intestine
36	chr6:35440000-35442600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:35440000-35443200	Strong transcription	Brain Anterior Caudate	brain
38	chr6:35440000-35443600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr6:35440000-35444200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:35440000-35452400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:35440200-35442400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr6:35440200-35442800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:35440200-35443600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:35440200-35445000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr6:35440200-35447400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:35440200-35447600	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr6:35440200-35448200	Strong transcription	Ovary	ovary
48	chr6:35440200-35452200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:35440200-35452400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:35440200-35457200	Weak transcription	Psoas Muscle	Psoas

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