Variant report

Variant	rs11604594
Chromosome Location	chr11:100807770-100807771
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	chr11:100805825..100807914-chr11:100811015..100813625,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11600273	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17576340	0.89[AFR][1000 genomes]
rs17646163	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17714248	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs531243	0.81[EUR][1000 genomes]
rs585271	0.81[EUR][1000 genomes]
rs638962	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs665787	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs7126456	0.91[CEU][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs7928290	1.00[CHD][hapmap]
rs7943777	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1054453	chr11:100802521-100814626	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv1037830	chr11:100802521-100818129	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv1051139	chr11:100802521-100819447	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv1051291	chr11:100803267-100814626	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100772000-100831400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:100773800-100809800	Weak transcription	Left Ventricle	heart
3	chr11:100774800-100812800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:100784000-100808800	Weak transcription	Primary B cells from cord blood	blood
5	chr11:100785400-100838400	Weak transcription	Fetal Intestine Small	intestine
6	chr11:100790200-100812600	Weak transcription	Stomach Mucosa	stomach
7	chr11:100794400-100812800	Weak transcription	Fetal Stomach	stomach
8	chr11:100797600-100811800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:100798600-100811600	Weak transcription	Fetal Lung	lung
10	chr11:100798600-100812800	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:100798600-100826600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:100798600-100828200	Weak transcription	Gastric	stomach
13	chr11:100798800-100811400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:100798800-100832200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:100799200-100812800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:100799200-100812800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:100800200-100846600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:100800800-100835800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:100801000-100809600	Weak transcription	Osteobl	bone
20	chr11:100801000-100812000	Weak transcription	Fetal Heart	heart
21	chr11:100801000-100814800	Weak transcription	HSMM	muscle
22	chr11:100801000-100819600	Weak transcription	HSMMtube	muscle
23	chr11:100801000-100823200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:100801000-100832400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:100801000-100835000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:100801400-100812600	Weak transcription	A549	lung
27	chr11:100801400-100833800	Weak transcription	NH-A	brain
28	chr11:100803000-100822600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr11:100803600-100811000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:100804000-100826200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:100804200-100812800	Weak transcription	Psoas Muscle	Psoas
32	chr11:100804800-100811000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:100805000-100808800	Weak transcription	Esophagus	oesophagus
34	chr11:100805400-100812800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr11:100806400-100808400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:100806600-100807800	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:100806600-100837200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:100806800-100809800	Strong transcription	Placenta	Placenta
39	chr11:100806800-100811800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:100806800-100832400	Weak transcription	Fetal Intestine Large	intestine
41	chr11:100807000-100808000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:100807000-100808000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr11:100807000-100808600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr11:100807000-100809200	Strong transcription	Adipose Nuclei	Adipose
45	chr11:100807000-100809200	Strong transcription	Liver	Liver
46	chr11:100807000-100809200	Strong transcription	Fetal Muscle Leg	muscle
47	chr11:100807000-100809600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:100807200-100809600	Weak transcription	Primary T cells from cord blood	blood
49	chr11:100807400-100808800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr11:100807600-100808000	Strong transcription	Ovary	ovary

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