Variant report

Variant	rs2605595
Chromosome Location	chr11:93213298-93213299
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93208394..93211665-chr11:93212462..93214583,3	K562	blood:
2	chr11:93212866..93215130-chr11:93219909..93223187,3	K562	blood:
3	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];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10831053	1.00[ASN][1000 genomes]
rs11020381	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11020389	1.00[ASN][1000 genomes]
rs11020403	1.00[ASN][1000 genomes]
rs11820614	0.91[AMR][1000 genomes];0.99[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];0.91[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	0.88[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	0.88[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];0.83[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	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605592	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605594	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605596	0.93[AFR][1000 genomes]
rs2605598	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605599	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[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];0.96[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605602	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605605	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608273	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608277	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608278	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658794	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658795	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658796	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658797	0.93[AFR][1000 genomes]
rs2658800	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	0.96[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];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124358	1.00[ASN][1000 genomes]
rs7365	0.96[YRI][hapmap];0.92[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
rs2605595	C11orf75	cis	lymphoblastoid	seeQTL
rs2605595	FAT3	cis	parietal	SCAN
rs2605595	CHORDC1	cis	parietal	SCAN

Chromatin state (count:74 , 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	chr11:93207800-93220000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:93208200-93223200	Weak transcription	GM12878-XiMat	blood
5	chr11:93208400-93218400	Weak transcription	Left Ventricle	heart
6	chr11:93208600-93217800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:93209000-93214200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:93209000-93231400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:93209000-93235200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:93209200-93215000	Weak transcription	Right Ventricle	heart
11	chr11:93209200-93229200	Weak transcription	Dnd41	blood
12	chr11:93209400-93214200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:93209400-93215000	Weak transcription	Right Atrium	heart
14	chr11:93209400-93218800	Strong transcription	Fetal Intestine Small	intestine
15	chr11:93209600-93214800	Strong transcription	Aorta	Aorta
16	chr11:93209600-93229400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:93209800-93217200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:93210000-93215800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr11:93210400-93213800	Weak transcription	Stomach Mucosa	stomach
20	chr11:93210600-93214400	Weak transcription	Esophagus	oesophagus
21	chr11:93210600-93214800	Strong transcription	Spleen	Spleen
22	chr11:93210600-93215400	Weak transcription	Fetal Lung	lung
23	chr11:93210600-93220000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:93210600-93231600	Weak transcription	A549	lung
25	chr11:93210800-93213400	Strong transcription	Pancreas	Pancrea
26	chr11:93211000-93214200	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:93211000-93214200	Weak transcription	Hela-S3	cervix
28	chr11:93211000-93218600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:93211000-93225800	Weak transcription	Thymus	Thymus
30	chr11:93211000-93253400	Weak transcription	Primary T cells from cord blood	blood
31	chr11:93211200-93215600	Weak transcription	Fetal Brain Female	brain
32	chr11:93211200-93222000	Weak transcription	Adipose Nuclei	Adipose
33	chr11:93211600-93215000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:93211600-93215000	Strong transcription	Fetal Stomach	stomach
35	chr11:93211600-93216600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:93211600-93219000	Weak transcription	HepG2	liver
37	chr11:93211600-93220400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr11:93211600-93223000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:93211600-93243800	Weak transcription	Fetal Thymus	thymus
40	chr11:93211800-93213600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:93211800-93214800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:93211800-93218600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:93211800-93220200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:93212000-93213600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:93212000-93213600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr11:93212000-93214400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:93212000-93215200	Genic enhancers	Gastric	stomach
48	chr11:93212000-93220000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:93212200-93213800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr11:93212200-93215400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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