Variant report

Variant	rs553334
Chromosome Location	chr11:100695229-100695230
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:100691211..100693446-chr11:100695155..100697505,2	K562	blood:
2	chr11:100694680..100697699-chr17:41464181..41467943,10	K562	blood:
3	chr11:100694679..100696199-chr17:41466737..41468260,2	MCF-7	breast:
4	chr11:100694050..100695606-chr11:100697206..100698838,2	K562	blood:
5	chr11:100694679..100696179-chr17:41400752..41402412,2	K562	blood:
6	chr11:100694700..100697700-chr17:41439505..41443891,3	K562	blood:
7	chr11:100694699..100696199-chr17:41465597..41467201,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188825	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11822331	0.80[EUR][1000 genomes]
rs11824259	0.96[EUR][1000 genomes]
rs13377291	0.80[EUR][1000 genomes]
rs17095407	0.80[EUR][1000 genomes]
rs17095436	0.80[EUR][1000 genomes]
rs598702	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs616680	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100670000-100697400	Weak transcription	Placenta	Placenta
2	chr11:100680800-100696400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:100681200-100698000	Weak transcription	Stomach Mucosa	stomach
4	chr11:100681400-100701000	Weak transcription	HSMM	muscle
5	chr11:100686200-100702800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr11:100688000-100698600	Weak transcription	NH-A	brain
7	chr11:100688000-100704000	Weak transcription	Right Ventricle	heart
8	chr11:100689000-100698600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr11:100689200-100698200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:100690400-100696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:100690800-100697200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr11:100691800-100696800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr11:100691800-100696800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:100692200-100696200	Weak transcription	HMEC	breast
15	chr11:100692200-100698000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:100692800-100696400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:100692800-100698200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:100693200-100695600	Enhancers	Adipose Nuclei	Adipose
19	chr11:100693600-100695400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:100693600-100697000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr11:100693600-100697000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr11:100693600-100697200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr11:100693600-100697200	Enhancers	Fetal Kidney	kidney
24	chr11:100693800-100695600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr11:100693800-100695600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr11:100694000-100695600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:100694200-100696400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:100694200-100696400	Weak transcription	Brain Anterior Caudate	brain
29	chr11:100694200-100696400	Weak transcription	Brain Germinal Matrix	brain
30	chr11:100694200-100698000	Weak transcription	Fetal Heart	heart
31	chr11:100694200-100698000	Weak transcription	Left Ventricle	heart
32	chr11:100694200-100698200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:100694200-100698400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:100694400-100696200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:100694400-100696400	Weak transcription	Small Intestine	intestine
36	chr11:100694400-100701000	Weak transcription	HSMMtube	muscle
37	chr11:100694600-100695400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:100694600-100695800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:100694600-100696000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr11:100694600-100698600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:100694800-100695400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:100694800-100695600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:100694800-100698200	Weak transcription	NHLF	lung
44	chr11:100695000-100696000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:100695000-100696200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:100695000-100696400	Weak transcription	Fetal Muscle Leg	muscle
47	chr11:100695000-100697200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr11:100695000-100697800	Weak transcription	Right Atrium	heart
49	chr11:100695000-100701000	Weak transcription	Psoas Muscle	Psoas
50	chr11:100695200-100695400	Enhancers	A549	lung

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