Variant report

Variant	rs7117611
Chromosome Location	chr11:34371398-34371399
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34194734..34196633-chr11:34370779..34372924,2	MCF-7	breast:
2	chr11:34368537..34371450-chr11:34371767..34375088,3	K562	blood:
3	chr11:34331497..34333782-chr11:34370435..34371982,2	MCF-7	breast:
4	chr11:34363297..34366211-chr11:34370921..34372477,2	K562	blood:
5	chr11:34370190..34372687-chr11:34377981..34381177,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166016	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10836192	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12288819	0.80[CEU][hapmap]
rs12361888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1886657	0.90[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs2073057	0.81[CEU][hapmap]
rs208678	0.81[CEU][hapmap]
rs208679	0.81[CEU][hapmap]
rs3781708	0.81[CEU][hapmap]
rs409598	0.81[CEU][hapmap]
rs7116915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7928840	0.90[CEU][hapmap];0.87[AMR][1000 genomes]
rs7932025	0.90[CEU][hapmap];0.91[GIH][hapmap];0.90[LWK][hapmap];0.86[MEX][hapmap];0.85[MKK][hapmap];0.87[AMR][1000 genomes]
rs7934929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][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	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv897210	chr11:34349427-34381075	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34363000-34372400	Enhancers	Fetal Muscle Leg	muscle
2	chr11:34364200-34376600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:34365400-34372200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr11:34366000-34371800	Enhancers	Right Atrium	heart
5	chr11:34366400-34374000	Enhancers	Psoas Muscle	Psoas
6	chr11:34367000-34371800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:34367000-34376200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:34367200-34375200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:34367400-34376400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:34367600-34372800	Enhancers	HepG2	liver
11	chr11:34367800-34376400	Weak transcription	Pancreas	Pancrea
12	chr11:34368200-34373000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr11:34368200-34375000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:34368200-34376600	Weak transcription	Brain Angular Gyrus	brain
15	chr11:34368400-34372200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:34368400-34375800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:34368400-34376200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:34368400-34377800	Weak transcription	Gastric	stomach
19	chr11:34368600-34371400	Enhancers	Stomach Smooth Muscle	stomach
20	chr11:34368600-34371400	Enhancers	A549	lung
21	chr11:34368600-34372000	Enhancers	HSMM	muscle
22	chr11:34368600-34373200	Enhancers	HSMMtube	muscle
23	chr11:34368600-34374200	Weak transcription	Stomach Mucosa	stomach
24	chr11:34368600-34376400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:34368800-34371400	Weak transcription	Hela-S3	cervix
26	chr11:34368800-34374800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr11:34368800-34376200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:34368800-34376200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:34369000-34371800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr11:34369400-34372200	Enhancers	Left Ventricle	heart
31	chr11:34369400-34372800	Enhancers	Liver	Liver
32	chr11:34370000-34371400	Enhancers	Colon Smooth Muscle	Colon
33	chr11:34370000-34372200	Enhancers	Right Ventricle	heart
34	chr11:34370200-34371400	Weak transcription	Placenta	Placenta
35	chr11:34370200-34372000	Enhancers	Brain Hippocampus Middle	brain
36	chr11:34370200-34372600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:34370400-34371400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr11:34370400-34371400	Weak transcription	Aorta	Aorta
39	chr11:34370400-34371800	Enhancers	Brain Substantia Nigra	brain
40	chr11:34370600-34371800	Weak transcription	Brain Germinal Matrix	brain
41	chr11:34370800-34371400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:34370800-34371400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:34370800-34372200	Enhancers	Duodenum Mucosa	Duodenum
44	chr11:34370800-34373000	Enhancers	GM12878-XiMat	blood
45	chr11:34370800-34376400	Weak transcription	Lung	lung
46	chr11:34371000-34371600	Enhancers	Small Intestine	intestine
47	chr11:34371000-34372600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:34371000-34376400	Weak transcription	Fetal Heart	heart
49	chr11:34371000-34376400	Weak transcription	Fetal Thymus	thymus
50	chr11:34371200-34371400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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