Variant report

Variant	rs11730156
Chromosome Location	chr4:22486548-22486549
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:22486301..22488142-chr4:22490876..22493757,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11728370	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs16872758	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[YRI][hapmap]
rs16872759	0.91[CEU][hapmap]
rs61793370	0.84[AFR][1000 genomes]
rs61793376	0.82[EUR][1000 genomes]
rs6818597	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs7675740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv878752	chr4:22414023-22501043	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11730156	SEL1L3	cis	cerebellum	SCAN

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22420600-22488000	Weak transcription	Aorta	Aorta
2	chr4:22450400-22493200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:22462000-22493200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:22473200-22487400	Weak transcription	Right Ventricle	heart
5	chr4:22475000-22489400	Weak transcription	Lung	lung
6	chr4:22476600-22487200	Weak transcription	Small Intestine	intestine
7	chr4:22477800-22489000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:22482200-22488800	Enhancers	HMEC	breast
9	chr4:22482400-22486600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:22483000-22487400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:22483000-22488400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:22483400-22488200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:22484000-22488400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:22484000-22488600	Enhancers	Primary hematopoietic stem cells	blood
15	chr4:22484200-22487200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:22484200-22487200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr4:22484200-22487200	Enhancers	HSMM	muscle
18	chr4:22484200-22488800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:22484200-22488800	Enhancers	NH-A	brain
20	chr4:22484200-22489400	Enhancers	HSMMtube	muscle
21	chr4:22484200-22490400	Enhancers	Fetal Muscle Leg	muscle
22	chr4:22484400-22486600	Enhancers	NHLF	lung
23	chr4:22484400-22486600	Enhancers	Osteobl	bone
24	chr4:22484400-22489000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:22484600-22486600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:22484600-22488400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:22484600-22489400	Enhancers	Fetal Lung	lung
28	chr4:22484800-22486600	Weak transcription	Fetal Brain Female	brain
29	chr4:22484800-22486800	Weak transcription	Psoas Muscle	Psoas
30	chr4:22484800-22487400	Weak transcription	Pancreas	Pancrea
31	chr4:22484800-22488600	Enhancers	NHDF-Ad	bronchial
32	chr4:22484800-22489000	Weak transcription	Right Atrium	heart
33	chr4:22484800-22492400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr4:22484800-22493000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:22484800-22498400	Weak transcription	Gastric	stomach
36	chr4:22485000-22487200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr4:22485000-22488600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:22485000-22489000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:22485000-22490200	Enhancers	Colon Smooth Muscle	Colon
40	chr4:22485000-22492400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr4:22485000-22506000	Weak transcription	Esophagus	oesophagus
42	chr4:22485200-22489400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr4:22485400-22487400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr4:22485400-22487800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:22485400-22487800	Weak transcription	HepG2	liver
46	chr4:22485400-22492400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:22485600-22486600	Enhancers	Primary T cells from cord blood	blood
48	chr4:22485600-22487000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:22485600-22487200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:22485600-22487200	Weak transcription	Fetal Heart	heart

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