Variant report

Variant	rs7104753
Chromosome Location	chr11:36616867-36616868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36611242..36613521-chr11:36616651..36619477,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10836583	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1105593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11827987	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12283331	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12804142	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1498336	0.80[ASN][1000 genomes]
rs1498338	0.80[ASN][1000 genomes]
rs16926234	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16929258	0.82[JPT][hapmap]
rs1818545	0.81[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2227973	0.82[JPT][hapmap]
rs7113441	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7942300	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv832123	chr11:36582872-36757443	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv1850719	chr11:36616867-36657272	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7104753	C11orf74	cis	cerebellum	SCAN
rs7104753	ABTB2	cis	parietal	SCAN

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36614200-36617200	Transcr. at gene 5' and 3'	Thymus	Thymus
2	chr11:36614200-36619600	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr11:36615600-36617000	Active TSS	K562	blood
4	chr11:36615800-36617000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:36615800-36617000	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr11:36615800-36617000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:36615800-36617000	Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr11:36615800-36617000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr11:36615800-36617000	Active TSS	A549	lung
10	chr11:36615800-36617000	Active TSS	HMEC	breast
11	chr11:36615800-36617000	Active TSS	NH-A	brain
12	chr11:36615800-36617000	Active TSS	NHDF-Ad	bronchial
13	chr11:36615800-36617200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr11:36615800-36617200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:36616000-36617000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:36616000-36617000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr11:36616000-36617000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:36616000-36617000	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr11:36616000-36617000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:36616000-36617000	Active TSS	Duodenum Mucosa	Duodenum
21	chr11:36616000-36617000	Active TSS	Fetal Muscle Leg	muscle
22	chr11:36616000-36617000	Active TSS	Fetal Stomach	stomach
23	chr11:36616000-36617000	Active TSS	Right Ventricle	heart
24	chr11:36616000-36617200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr11:36616000-36617200	Active TSS	Brain Germinal Matrix	brain
26	chr11:36616000-36617200	Active TSS	Psoas Muscle	Psoas
27	chr11:36616000-36617200	Active TSS	Right Atrium	heart
28	chr11:36616000-36617200	Active TSS	HSMMtube	muscle
29	chr11:36616000-36617200	Active TSS	NHLF	lung
30	chr11:36616200-36617200	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr11:36616400-36617000	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr11:36616400-36617200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:36616400-36617200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:36616400-36617200	Flanking Active TSS	Liver	Liver
35	chr11:36616400-36617200	Flanking Active TSS	Fetal Brain Female	brain
36	chr11:36616600-36617000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:36616600-36617000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr11:36616600-36617000	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr11:36616600-36617000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:36616600-36617000	Active TSS	Fetal Brain Male	brain
41	chr11:36616600-36617000	Weak transcription	Gastric	stomach
42	chr11:36616600-36617000	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr11:36616600-36617000	Active TSS	HepG2	liver
44	chr11:36616600-36617000	Flanking Active TSS	Osteobl	bone
45	chr11:36616600-36617200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr11:36616600-36617200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:36616600-36617200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:36616600-36617200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:36616600-36617200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:36616600-36617200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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