Variant report

Variant	rs2933235
Chromosome Location	chr12:56921418-56921419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56919517..56922316-chr12:56981865..56983826,2	K562	blood:
2	chr12:56918887..56922105-chr12:57038272..57040603,3	MCF-7	breast:
3	chr12:56916521..56918137-chr12:56919957..56922129,2	MCF-7	breast:
4	chr12:56920527..56922162-chr12:56923065..56925052,2	K562	blood:

Variant related genes	Relation type
ENSG00000110955	Chromatin interaction
ENSG00000201579	Chromatin interaction
ENSG00000207031	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2638287	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2638301	0.89[AMR][1000 genomes]
rs2657896	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2657907	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2694917	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2694919	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs774211	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs774213	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs774215	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs799260	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs799261	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs813497	1.00[AMR][1000 genomes];0.99[EUR][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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv899106	chr12:56905558-57004668	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2933235	SPRYD4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56916600-56923200	Weak transcription	Small Intestine	intestine
2	chr12:56916800-56930400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:56917000-56921600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:56917000-56923000	Weak transcription	Aorta	Aorta
5	chr12:56917000-56958000	Weak transcription	Ovary	ovary
6	chr12:56917200-56923000	Weak transcription	Psoas Muscle	Psoas
7	chr12:56917200-56956200	Weak transcription	Primary T cells from cord blood	blood
8	chr12:56917200-56959200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:56917400-56924600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:56917400-56931400	Weak transcription	Right Ventricle	heart
11	chr12:56918600-56930000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:56919400-56921600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:56919400-56929600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:56919600-56923200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:56919600-56924200	Weak transcription	Spleen	Spleen
16	chr12:56920200-56921600	Enhancers	HepG2	liver
17	chr12:56920200-56922000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:56920200-56922000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr12:56920200-56922000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:56920600-56921800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:56920600-56922200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr12:56920600-56924800	Enhancers	Placenta	Placenta
23	chr12:56920800-56922000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr12:56920800-56922000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:56920800-56922600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:56920800-56923400	Enhancers	Left Ventricle	heart
27	chr12:56921000-56921600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:56921000-56921600	Enhancers	Fetal Intestine Small	intestine
29	chr12:56921000-56921600	Enhancers	HSMM	muscle
30	chr12:56921000-56921800	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:56921000-56921800	Enhancers	Fetal Heart	heart
32	chr12:56921000-56921800	Enhancers	Fetal Kidney	kidney
33	chr12:56921000-56922000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr12:56921000-56922000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr12:56921000-56922000	Enhancers	Fetal Intestine Large	intestine
36	chr12:56921000-56922000	Enhancers	Fetal Lung	lung
37	chr12:56921000-56922200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr12:56921000-56922400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:56921000-56922800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:56921000-56923200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:56921000-56923200	Enhancers	Fetal Muscle Leg	muscle
42	chr12:56921000-56923400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr12:56921000-56923800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:56921000-56923800	Enhancers	Lung	lung
45	chr12:56921000-56923800	Enhancers	HMEC	breast
46	chr12:56921200-56921800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr12:56921200-56921800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:56921200-56921800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:56921200-56921800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:56921200-56921800	Enhancers	Muscle Satellite Cultured Cells	--

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