Variant report

Variant	rs11980210
Chromosome Location	chr7:105448210-105448211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:105446426..105449323-chr7:105454284..105457233,3	MCF-7	breast:
2	chr7:105440893..105443380-chr7:105445817..105448313,3	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2240474	0.88[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4727626	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs668647	0.88[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027213	chr7:105438610-106022869	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11980210	SYPL1	cis	parietal	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105422000-105452000	Weak transcription	Colonic Mucosa	Colon
2	chr7:105430200-105479200	Weak transcription	Aorta	Aorta
3	chr7:105441200-105457200	Weak transcription	Fetal Lung	lung
4	chr7:105441400-105449800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:105444200-105448800	Weak transcription	Small Intestine	intestine
6	chr7:105444600-105451200	Weak transcription	HepG2	liver
7	chr7:105445200-105448600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:105445200-105448800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:105445400-105448400	Enhancers	HMEC	breast
10	chr7:105445400-105450400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:105445600-105448800	Enhancers	Fetal Muscle Trunk	muscle
12	chr7:105445600-105448800	Enhancers	Fetal Thymus	thymus
13	chr7:105446000-105448400	Enhancers	Fetal Brain Male	brain
14	chr7:105446000-105448600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:105446000-105448800	Strong transcription	Fetal Intestine Large	intestine
16	chr7:105446000-105449000	Enhancers	Esophagus	oesophagus
17	chr7:105446000-105449200	Enhancers	Brain Anterior Caudate	brain
18	chr7:105446000-105450800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:105446000-105452600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr7:105446200-105451600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:105446400-105448400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr7:105446400-105450400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr7:105446400-105451400	Weak transcription	Liver	Liver
24	chr7:105446400-105471200	Weak transcription	Lung	lung
25	chr7:105446600-105448400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr7:105446600-105449200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr7:105446600-105450600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr7:105446600-105451400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr7:105446800-105448800	Strong transcription	Fetal Stomach	stomach
30	chr7:105446800-105449800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:105446800-105450800	Enhancers	Primary B cells from peripheral blood	blood
32	chr7:105446800-105450800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:105446800-105456000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:105446800-105457200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:105446800-105470000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr7:105446800-105470200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:105446800-105471200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:105447000-105448600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr7:105447000-105448800	Enhancers	Right Ventricle	heart
40	chr7:105447000-105449800	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr7:105447000-105470000	Weak transcription	Ovary	ovary
42	chr7:105447200-105451000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:105447200-105454200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:105447200-105457000	Weak transcription	Gastric	stomach
45	chr7:105447200-105470200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:105447400-105450800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr7:105447600-105448800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:105447600-105449400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:105447600-105449400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr7:105447600-105449400	Weak transcription	K562	blood

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