Variant report

Variant	rs3850931
Chromosome Location	chr11:8798824-8798825
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8709428..8711935-chr11:8797742..8799466,2	K562	blood:
2	chr11:8792754..8796675-chr11:8797137..8799307,3	K562	blood:
3	chr11:8708821..8711720-chr11:8797773..8800794,3	MCF-7	breast:
4	chr11:8719301..8720930-chr11:8796904..8798885,2	K562	blood:

Variant related genes	Relation type
ENSG00000166444	Chromatin interaction
ENSG00000166441	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10219216	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10219217	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1875567	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2055462	1.00[AMR][1000 genomes]
rs3850932	1.00[AMR][1000 genomes]
rs4929913	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4929917	0.84[ASW][hapmap];0.95[YRI][hapmap]
rs4929935	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4929939	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57836157	1.00[AMR][1000 genomes]
rs6484547	0.89[YRI][hapmap]
rs7121160	0.90[YRI][hapmap]
rs7127574	0.91[MKK][hapmap]
rs73408030	1.00[AMR][1000 genomes]

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	nsv553447	chr11:8792622-8825966	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8779600-8799600	Weak transcription	Fetal Brain Male	brain
2	chr11:8785200-8799400	Enhancers	Fetal Heart	heart
3	chr11:8786600-8803000	Enhancers	Ovary	ovary
4	chr11:8788600-8799600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:8788800-8801400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:8788800-8808400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:8789000-8801200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:8789400-8807600	Weak transcription	Fetal Kidney	kidney
9	chr11:8789600-8799400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:8789600-8805800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:8791400-8810400	Weak transcription	Hela-S3	cervix
12	chr11:8792600-8802400	Genic enhancers	Fetal Stomach	stomach
13	chr11:8793200-8801600	Genic enhancers	Fetal Muscle Leg	muscle
14	chr11:8794000-8799400	Enhancers	Spleen	Spleen
15	chr11:8794200-8799400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr11:8794200-8801000	Enhancers	Pancreas	Pancrea
17	chr11:8794200-8803000	Enhancers	Left Ventricle	heart
18	chr11:8794600-8803000	Enhancers	Right Ventricle	heart
19	chr11:8795000-8799600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:8795000-8801400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:8795000-8809800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:8795200-8799000	Weak transcription	Fetal Lung	lung
23	chr11:8795200-8799400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:8795200-8799400	Weak transcription	Brain Anterior Caudate	brain
25	chr11:8795200-8799400	Weak transcription	NH-A	brain
26	chr11:8795200-8799400	Weak transcription	Osteobl	bone
27	chr11:8795600-8802600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr11:8796200-8799400	Weak transcription	Brain Angular Gyrus	brain
29	chr11:8796200-8799600	Weak transcription	Fetal Intestine Large	intestine
30	chr11:8796200-8801200	Enhancers	HSMMtube	muscle
31	chr11:8796200-8808000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:8796400-8800000	Weak transcription	Fetal Thymus	thymus
33	chr11:8796800-8799400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr11:8796800-8799600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:8796800-8800000	Weak transcription	Colonic Mucosa	Colon
36	chr11:8796800-8801000	Genic enhancers	HSMM	muscle
37	chr11:8797000-8801000	Enhancers	Psoas Muscle	Psoas
38	chr11:8797000-8801200	Enhancers	Aorta	Aorta
39	chr11:8797200-8799200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr11:8797200-8799600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:8797400-8800000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr11:8797400-8801800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:8797400-8808200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr11:8797600-8799200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:8797800-8799200	Weak transcription	NHDF-Ad	bronchial
46	chr11:8797800-8801800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr11:8797800-8827200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:8798000-8799000	Weak transcription	NHLF	lung
49	chr11:8798000-8799400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:8798000-8799600	Weak transcription	Brain Hippocampus Middle	brain

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