Variant report

Variant	rs6483246
Chromosome Location	chr11:93209025-93209026
allele	C/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: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10831050	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10831053	1.00[ASN][1000 genomes]
rs11020381	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11020389	1.00[ASN][1000 genomes]
rs11020403	1.00[ASN][1000 genomes]
rs11820614	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1869912	1.00[ASN][1000 genomes]
rs2045313	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2045459	0.99[EUR][1000 genomes]
rs2045461	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2045462	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2198797	1.00[ASN][1000 genomes]
rs2605591	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605592	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605594	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605595	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605598	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605599	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605601	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605602	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605605	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608273	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608277	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608278	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658794	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658795	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658796	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658800	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658802	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2939621	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7114771	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124358	1.00[ASN][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

No data

Chromatin state (count:33 , 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	chr11:93207600-93209200	Weak transcription	Fetal Stomach	stomach
7	chr11:93207600-93209800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr11:93207600-93210200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:93207600-93210400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:93207600-93211000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:93207800-93210200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:93207800-93210200	Weak transcription	Fetal Lung	lung
13	chr11:93207800-93210800	Weak transcription	Pancreas	Pancrea
14	chr11:93207800-93220000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:93208000-93209600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr11:93208200-93209400	Weak transcription	Hela-S3	cervix
17	chr11:93208200-93209800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:93208200-93223200	Weak transcription	GM12878-XiMat	blood
19	chr11:93208400-93210000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr11:93208400-93212000	Weak transcription	Ovary	ovary
21	chr11:93208400-93218400	Weak transcription	Left Ventricle	heart
22	chr11:93208600-93209400	Weak transcription	Fetal Intestine Small	intestine
23	chr11:93208600-93217800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:93208800-93209600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:93208800-93210200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:93208800-93210400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:93208800-93213000	Strong transcription	Liver	Liver
28	chr11:93209000-93209200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr11:93209000-93209200	Enhancers	Right Ventricle	heart
30	chr11:93209000-93210600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:93209000-93214200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:93209000-93231400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:93209000-93235200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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