Variant report

Variant	rs2608280
Chromosome Location	chr11:93209472-93209473
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	chr11:93208394..93211665-chr11:93212462..93214583,3	K562	blood:
2	chr11:93207837..93211665-chr11:93212899..93215051,4	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10734161	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2124558	0.95[CHB][hapmap];0.86[LWK][hapmap];0.84[ASN][1000 genomes]
rs2605597	0.84[ASN][1000 genomes]
rs2608272	0.84[ASN][1000 genomes]
rs2608279	0.82[ASN][1000 genomes]
rs2658798	0.82[ASW][hapmap];0.85[LWK][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes]
rs2658801	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs7106781	0.98[ASN][1000 genomes]
rs897906	0.91[CHB][hapmap];0.83[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	nsv1039134	chr11:92790000-93219942	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv2760208	chr11:93172673-93266594	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2608280	CHORDC1	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93200600-93214400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:93206200-93210600	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:93206800-93210600	Weak transcription	Fetal Intestine Large	intestine
4	chr11:93207000-93239000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr11:93207400-93210600	Weak transcription	Spleen	Spleen
6	chr11:93207600-93209800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:93207600-93210200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:93207600-93210400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:93207600-93211000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:93207800-93210200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:93207800-93210200	Weak transcription	Fetal Lung	lung
12	chr11:93207800-93210800	Weak transcription	Pancreas	Pancrea
13	chr11:93207800-93220000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:93208000-93209600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr11:93208200-93209800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:93208200-93223200	Weak transcription	GM12878-XiMat	blood
17	chr11:93208400-93210000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr11:93208400-93212000	Weak transcription	Ovary	ovary
19	chr11:93208400-93218400	Weak transcription	Left Ventricle	heart
20	chr11:93208600-93217800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:93208800-93209600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:93208800-93210200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:93208800-93210400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:93208800-93213000	Strong transcription	Liver	Liver
25	chr11:93209000-93210600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:93209000-93214200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr11:93209000-93231400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:93209000-93235200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:93209200-93209600	Weak transcription	Aorta	Aorta
30	chr11:93209200-93210000	Strong transcription	Fetal Stomach	stomach
31	chr11:93209200-93210800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:93209200-93211000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:93209200-93213200	Weak transcription	Small Intestine	intestine
34	chr11:93209200-93215000	Weak transcription	Right Ventricle	heart
35	chr11:93209200-93229200	Weak transcription	Dnd41	blood
36	chr11:93209400-93209600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr11:93209400-93210400	Weak transcription	Adipose Nuclei	Adipose
38	chr11:93209400-93210600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr11:93209400-93210600	Enhancers	NHEK	skin
40	chr11:93209400-93211000	Enhancers	Hela-S3	cervix
41	chr11:93209400-93214200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr11:93209400-93215000	Weak transcription	Right Atrium	heart
43	chr11:93209400-93218800	Strong transcription	Fetal Intestine Small	intestine

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