Variant report

Variant	rs2658796
Chromosome Location	chr11:93210816-93210817
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	chr11:93208394..93211665-chr11:93212462..93214583,3	K562	blood:
2	chr11:93207837..93211665-chr11:93212899..93215051,4	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10831050	0.83[CEU][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10831053	1.00[ASN][1000 genomes]
rs11020381	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11020389	1.00[ASN][1000 genomes]
rs11020403	1.00[ASN][1000 genomes]
rs11820614	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1869912	1.00[ASN][1000 genomes]
rs2045313	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2045459	0.98[EUR][1000 genomes]
rs2045461	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2045462	0.96[CEU][hapmap];0.93[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2198797	1.00[ASN][1000 genomes]
rs2605591	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605592	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605594	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605595	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605596	0.92[AFR][1000 genomes]
rs2605598	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605599	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605601	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605602	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605605	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608273	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608277	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608278	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658794	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658795	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658797	0.95[AFR][1000 genomes]
rs2658800	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658802	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2939621	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6483246	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114771	0.83[CEU][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124358	1.00[ASN][1000 genomes]
rs7365	0.96[YRI][hapmap];0.97[AFR][1000 genomes]
rs897556	1.00[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2658796	CHORDC1	cis	parietal	SCAN
rs2658796	C11orf75	cis	lymphoblastoid	seeQTL
rs2658796	FAT3	cis	parietal	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93200600-93214400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:93207000-93239000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:93207600-93211000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:93207800-93220000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:93208200-93223200	Weak transcription	GM12878-XiMat	blood
6	chr11:93208400-93212000	Weak transcription	Ovary	ovary
7	chr11:93208400-93218400	Weak transcription	Left Ventricle	heart
8	chr11:93208600-93217800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:93208800-93213000	Strong transcription	Liver	Liver
10	chr11:93209000-93214200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:93209000-93231400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:93209000-93235200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:93209200-93211000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:93209200-93213200	Weak transcription	Small Intestine	intestine
15	chr11:93209200-93215000	Weak transcription	Right Ventricle	heart
16	chr11:93209200-93229200	Weak transcription	Dnd41	blood
17	chr11:93209400-93211000	Enhancers	Hela-S3	cervix
18	chr11:93209400-93214200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:93209400-93215000	Weak transcription	Right Atrium	heart
20	chr11:93209400-93218800	Strong transcription	Fetal Intestine Small	intestine
21	chr11:93209600-93211200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:93209600-93211600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:93209600-93211800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:93209600-93212000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:93209600-93213000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr11:93209600-93214800	Strong transcription	Aorta	Aorta
27	chr11:93209600-93229400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr11:93209800-93211600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:93209800-93212200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:93209800-93212200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:93209800-93213000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:93209800-93217200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:93210000-93211000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr11:93210000-93211200	Enhancers	Stomach Smooth Muscle	stomach
35	chr11:93210000-93211400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:93210000-93211600	Genic enhancers	Fetal Stomach	stomach
37	chr11:93210000-93211800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:93210000-93212200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:93210000-93215800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr11:93210200-93211000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr11:93210200-93211000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr11:93210200-93211000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr11:93210200-93211000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr11:93210200-93211800	Weak transcription	Colonic Mucosa	Colon
45	chr11:93210200-93212600	Enhancers	Fetal Brain Male	brain
46	chr11:93210400-93211200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr11:93210400-93211200	Strong transcription	Adipose Nuclei	Adipose
48	chr11:93210400-93211200	Enhancers	Fetal Brain Female	brain
49	chr11:93210400-93211200	Enhancers	Fetal Muscle Trunk	muscle
50	chr11:93210400-93211200	Enhancers	HSMMtube	muscle

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