Variant report

Variant	rs10840127
Chromosome Location	chr11:8826688-8826689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8703535..8705747-chr11:8826684..8828285,2	MCF-7	breast:
2	chr11:8776493..8778441-chr11:8825146..8827348,2	MCF-7	breast:
3	chr11:8825764..8827558-chr11:8831066..8834335,3	K562	blood:

Variant related genes	Relation type
ENSG00000166441	Chromatin interaction
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10522860	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10734638	0.94[CEU][hapmap]
rs10840129	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042070	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11042072	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11042099	0.95[CEU][hapmap]
rs1133833	0.94[CEU][hapmap]
rs16906056	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17337866	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2568029	0.94[CEU][hapmap]
rs2568035	0.92[CEU][hapmap]
rs2568056	0.95[CEU][hapmap]
rs2653558	0.95[CEU][hapmap]
rs2653591	0.84[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2742502	0.94[CEU][hapmap]
rs34023999	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34033747	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34417491	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34418236	0.86[ASN][1000 genomes]
rs35503692	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36094920	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36180552	0.86[ASN][1000 genomes]
rs3850934	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs3915868	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4910068	0.94[CEU][hapmap]
rs4929915	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7117900	0.95[CEU][hapmap]
rs7127197	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7950491	0.93[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv527920	chr11:8816695-8856822	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8797800-8827200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:8800800-8827400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:8801600-8827400	Weak transcription	Esophagus	oesophagus
4	chr11:8809000-8830200	Weak transcription	Fetal Brain Male	brain
5	chr11:8809200-8829200	Weak transcription	Fetal Kidney	kidney
6	chr11:8811800-8827000	Weak transcription	HMEC	breast
7	chr11:8811800-8828600	Weak transcription	Hela-S3	cervix
8	chr11:8811800-8828800	Weak transcription	Aorta	Aorta
9	chr11:8811800-8830400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:8811800-8830600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:8814200-8828400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:8815000-8827800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:8815200-8826800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:8815800-8827800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:8816400-8831800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:8816600-8827400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr11:8816600-8828400	Weak transcription	NHDF-Ad	bronchial
18	chr11:8816600-8828800	Weak transcription	Brain Substantia Nigra	brain
19	chr11:8816600-8830000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:8816600-8830600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:8816800-8828600	Weak transcription	Small Intestine	intestine
22	chr11:8817000-8828600	Weak transcription	Fetal Intestine Large	intestine
23	chr11:8817200-8828600	Weak transcription	Fetal Intestine Small	intestine
24	chr11:8817400-8828200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:8819800-8828600	Weak transcription	Osteobl	bone
26	chr11:8819800-8829800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:8820000-8828200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:8821400-8827600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:8821600-8830200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr11:8822200-8827200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:8822200-8827400	Weak transcription	Psoas Muscle	Psoas
32	chr11:8822200-8828600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:8822400-8828400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:8822600-8827400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:8822600-8828200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:8822800-8826800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:8822800-8827200	Weak transcription	Fetal Heart	heart
38	chr11:8823000-8827400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:8823000-8827600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:8823200-8827600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:8823600-8828600	Enhancers	Stomach Mucosa	stomach
42	chr11:8824200-8830400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:8824600-8828600	Weak transcription	NH-A	brain
44	chr11:8825000-8827200	Genic enhancers	Stomach Smooth Muscle	stomach
45	chr11:8825000-8827600	Strong transcription	NHLF	lung
46	chr11:8825200-8827800	Genic enhancers	Fetal Muscle Leg	muscle
47	chr11:8825200-8828800	Enhancers	Brain Hippocampus Middle	brain
48	chr11:8825200-8829400	Enhancers	Right Ventricle	heart
49	chr11:8825400-8827000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr11:8825400-8829400	Enhancers	Brain Cingulate Gyrus	brain

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