Variant report

Variant	rs524811
Chromosome Location	chr11:100859439-100859440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr11:100858766-100859503	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100851180..100854144-chr11:100858258..100861196,2	K562	blood:
2	chr11:100856345..100859552-chr11:100865744..100869877,3	MCF-7	breast:

Variant related genes	Relation type
TMEM133	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10488785	0.87[MEX][hapmap];0.85[MKK][hapmap]
rs2509107	0.86[AFR][1000 genomes]
rs4754715	1.00[LWK][hapmap];0.87[MEX][hapmap];0.95[MKK][hapmap];0.93[AFR][1000 genomes]
rs483657	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs561268	0.86[AFR][1000 genomes]
rs612046	0.86[AFR][1000 genomes]
rs651301	0.94[LWK][hapmap];0.87[MEX][hapmap];0.89[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs524811	DYNC2H1	cis	parietal	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100844000-100860200	Strong transcription	Placenta	Placenta
2	chr11:100844800-100863000	Weak transcription	Brain Anterior Caudate	brain
3	chr11:100848000-100861800	Weak transcription	Fetal Heart	heart
4	chr11:100848200-100859600	Weak transcription	Stomach Mucosa	stomach
5	chr11:100848200-100861200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:100848200-100866000	Weak transcription	Psoas Muscle	Psoas
7	chr11:100848400-100859800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:100848400-100859800	Weak transcription	Fetal Kidney	kidney
9	chr11:100848400-100860800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:100848400-100863200	Weak transcription	Fetal Intestine Large	intestine
11	chr11:100848400-100864600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:100848600-100863400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:100848600-100865200	Weak transcription	Left Ventricle	heart
14	chr11:100848600-100865800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:100848800-100860000	Weak transcription	NH-A	brain
16	chr11:100848800-100864800	Weak transcription	HSMM	muscle
17	chr11:100849000-100862000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:100849000-100863000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr11:100849200-100867400	Weak transcription	Fetal Lung	lung
20	chr11:100850000-100859800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:100850000-100861600	Weak transcription	Adipose Nuclei	Adipose
22	chr11:100850600-100864600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:100851000-100870400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:100852000-100860400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:100854600-100860600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:100855800-100859600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr11:100856400-100860000	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr11:100856400-100862600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:100857200-100860000	Weak transcription	Fetal Intestine Small	intestine
30	chr11:100857400-100860000	Weak transcription	Fetal Stomach	stomach
31	chr11:100857400-100864600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:100857600-100870400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:100858400-100861200	Weak transcription	HSMMtube	muscle
34	chr11:100858600-100861000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:100858600-100862800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr11:100858600-100865600	Weak transcription	Fetal Muscle Leg	muscle
37	chr11:100858600-100870400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:100859200-100859600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:100859200-100862600	Strong transcription	Liver	Liver
40	chr11:100859400-100861200	Weak transcription	Fetal Muscle Trunk	muscle

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