Variant report

Variant	rs738505
Chromosome Location	chr22:27814070-27814071
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	chr22:27813673..27816169-chr22:27820833..27822951,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4820756	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs733164	0.91[AMR][1000 genomes];0.93[ASN][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	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834166	chr22:27628570-27814359	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv459864	chr22:27760086-27865344	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv588875	chr22:27760086-27865344	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs738505	EMID1	cis	cerebellum	SCAN
rs738505	BCR	cis	cerebellum	SCAN
rs738505	SUSD2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27810800-27814200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr22:27810800-27814200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr22:27811200-27814600	Enhancers	Fetal Brain Male	brain
4	chr22:27811600-27814200	Enhancers	Fetal Brain Female	brain
5	chr22:27812000-27814200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr22:27812200-27814200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr22:27812600-27816800	Enhancers	HUVEC	blood vessel
8	chr22:27812600-27817000	Enhancers	NH-A	brain
9	chr22:27812600-27817800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr22:27812800-27816600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr22:27812800-27817400	Weak transcription	Fetal Thymus	thymus
12	chr22:27813000-27815000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr22:27813000-27816200	Weak transcription	Right Atrium	heart
14	chr22:27813200-27815600	Weak transcription	Fetal Kidney	kidney
15	chr22:27813200-27816400	Weak transcription	NHLF	lung
16	chr22:27813400-27814200	Weak transcription	Pancreas	Pancrea
17	chr22:27813400-27814800	Weak transcription	Brain Substantia Nigra	brain
18	chr22:27813400-27814800	Weak transcription	HSMMtube	muscle
19	chr22:27813400-27815200	Weak transcription	HSMM	muscle
20	chr22:27813400-27815400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr22:27813400-27815400	Weak transcription	Colon Smooth Muscle	Colon
22	chr22:27813400-27816400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr22:27813400-27816400	Weak transcription	Ovary	ovary
24	chr22:27813600-27814600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr22:27813600-27814800	Weak transcription	NHEK	skin
26	chr22:27813600-27815200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr22:27813600-27816400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr22:27813600-27816400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr22:27813800-27814800	Weak transcription	HMEC	breast
30	chr22:27813800-27815000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr22:27813800-27815000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr22:27813800-27815200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr22:27813800-27815200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr22:27813800-27815400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr22:27813800-27816400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr22:27813800-27816400	Weak transcription	Fetal Lung	lung
37	chr22:27813800-27816400	Weak transcription	NHDF-Ad	bronchial
38	chr22:27813800-27816800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr22:27813800-27817200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr22:27813800-27817400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:27813800-27817600	Enhancers	Brain Germinal Matrix	brain
42	chr22:27814000-27814200	Enhancers	Gastric	stomach
43	chr22:27814000-27814400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr22:27814000-27815200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:27814000-27816200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr22:27814000-27816400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr22:27814000-27816400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr22:27814000-27816600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr22:27814000-27816800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr22:27814000-27817000	Weak transcription	H1 Cell Line	embryonic stem cell

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