Variant report

Variant	rs7944416
Chromosome Location	chr11:8847230-8847231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8702560..8704162-chr11:8846609..8848145,2	MCF-7	breast:
2	chr11:8701773..8703653-chr11:8846645..8848951,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166441	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs16905815	1.00[AMR][1000 genomes]
rs56210429	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56388022	1.00[AMR][1000 genomes]
rs57145477	1.00[AMR][1000 genomes]
rs58419940	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59279926	1.00[AMR][1000 genomes]
rs59314560	1.00[AMR][1000 genomes]
rs59524952	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59974779	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60980006	1.00[AMR][1000 genomes]
rs6484494	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053135	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053138	1.00[AMR][1000 genomes]
rs74053141	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053166	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053169	1.00[AMR][1000 genomes]
rs74053170	1.00[AMR][1000 genomes]
rs74053172	1.00[AMR][1000 genomes]
rs74053175	1.00[AMR][1000 genomes]
rs74053180	1.00[AMR][1000 genomes]
rs74053189	1.00[AMR][1000 genomes]
rs74054210	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74054216	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74054218	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7944777	1.00[AMR][1000 genomes]
rs7945378	1.00[AMR][1000 genomes]
rs7949286	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv527073	chr11:8829168-8848463	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8833200-8859800	Weak transcription	Aorta	Aorta
2	chr11:8835600-8848800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:8836200-8848000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:8836400-8847600	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:8836400-8849800	Weak transcription	Fetal Intestine Small	intestine
6	chr11:8836600-8850400	Weak transcription	Fetal Lung	lung
7	chr11:8836800-8847600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:8836800-8848600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:8837000-8850000	Weak transcription	Lung	lung
10	chr11:8837200-8847600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:8837200-8847600	Weak transcription	Fetal Kidney	kidney
12	chr11:8837200-8848000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:8837200-8848600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:8837400-8848000	Weak transcription	NHEK	skin
15	chr11:8837800-8848400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:8838000-8848400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:8839000-8849400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:8839200-8847800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:8839200-8849600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:8841000-8847800	Weak transcription	Fetal Stomach	stomach
21	chr11:8844000-8848000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr11:8845000-8847400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:8845000-8848000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:8845200-8847400	Weak transcription	K562	blood
25	chr11:8845200-8848000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:8845200-8854200	Weak transcription	Psoas Muscle	Psoas
27	chr11:8845800-8860000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:8846600-8854400	Weak transcription	Fetal Intestine Large	intestine
29	chr11:8846800-8849000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:8847000-8847400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr11:8847000-8847400	Enhancers	HSMMtube	muscle
32	chr11:8847000-8847600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:8847000-8847800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr11:8847000-8847800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr11:8847000-8848200	Enhancers	HSMM	muscle
36	chr11:8847000-8849200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr11:8847000-8849400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:8847000-8852800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:8847200-8847400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:8847200-8847600	Enhancers	NH-A	brain
41	chr11:8847200-8849000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr11:8847200-8849000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr11:8847200-8849200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr11:8847200-8849200	Enhancers	NHDF-Ad	bronchial
45	chr11:8847200-8849400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr11:8847200-8849400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:8847200-8849400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:8847200-8849800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr11:8847200-8849800	Enhancers	NHLF	lung

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