Variant report

Variant	rs7115978
Chromosome Location	chr11:75538399-75538400
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75538391..75541222-chr11:75552775..75555078,2	MCF-7	breast:
2	chr11:75523241..75526471-chr11:75537814..75541903,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198382	Chromatin interaction
ENSG00000255507	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12279369	1.00[EUR][1000 genomes]
rs12283986	1.00[EUR][1000 genomes]
rs17134361	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134375	1.00[EUR][1000 genomes]
rs2371370	1.00[EUR][1000 genomes]
rs2371373	1.00[EUR][1000 genomes]
rs34113941	1.00[EUR][1000 genomes]
rs3862806	1.00[EUR][1000 genomes]
rs55740367	1.00[EUR][1000 genomes]
rs56216135	1.00[EUR][1000 genomes]
rs56230849	1.00[EUR][1000 genomes]
rs56280826	1.00[EUR][1000 genomes]
rs57081953	1.00[EUR][1000 genomes]
rs58443332	1.00[EUR][1000 genomes]
rs58509556	1.00[EUR][1000 genomes]
rs60606258	1.00[EUR][1000 genomes]
rs7102067	1.00[EUR][1000 genomes]
rs7102544	1.00[EUR][1000 genomes]
rs7105260	1.00[EUR][1000 genomes]
rs7106322	1.00[EUR][1000 genomes]
rs7118055	1.00[EUR][1000 genomes]
rs7122276	1.00[EUR][1000 genomes]
rs7122386	1.00[EUR][1000 genomes]
rs7122695	1.00[EUR][1000 genomes]
rs7125495	1.00[EUR][1000 genomes]
rs7131141	1.00[EUR][1000 genomes]
rs73491729	1.00[EUR][1000 genomes]
rs73491733	1.00[EUR][1000 genomes]
rs73491734	1.00[EUR][1000 genomes]
rs73491737	1.00[EUR][1000 genomes]
rs73491741	1.00[EUR][1000 genomes]
rs73504544	1.00[EUR][1000 genomes]
rs7928366	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7933028	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7934683	1.00[EUR][1000 genomes]
rs7934862	1.00[EUR][1000 genomes]
rs7934895	1.00[EUR][1000 genomes]
rs7937098	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7939174	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7948380	1.00[EUR][1000 genomes]
rs7948526	1.00[EUR][1000 genomes]
rs7948641	1.00[EUR][1000 genomes]
rs7949863	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897925	chr11:75456134-75556323	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv832212	chr11:75524993-75725623	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75528000-75538400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:75528200-75541000	Weak transcription	Esophagus	oesophagus
3	chr11:75528200-75549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:75528200-75553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:75528400-75541600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:75528400-75543000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:75528400-75550800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:75528400-75561600	Weak transcription	HSMM	muscle
9	chr11:75528400-75561800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:75528600-75540000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:75528600-75543800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:75528600-75561400	Weak transcription	Fetal Brain Female	brain
13	chr11:75528600-75561400	Weak transcription	Thymus	Thymus
14	chr11:75528600-75563600	Weak transcription	Dnd41	blood
15	chr11:75528800-75547200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:75529200-75544400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr11:75529200-75544400	Weak transcription	Fetal Brain Male	brain
18	chr11:75531800-75539400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr11:75532200-75538600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:75532200-75551000	Weak transcription	NHEK	skin
21	chr11:75532400-75551000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:75533200-75539400	Enhancers	Rectal Smooth Muscle	rectum
23	chr11:75533600-75540600	Weak transcription	Ovary	ovary
24	chr11:75533600-75549000	Weak transcription	K562	blood
25	chr11:75534000-75538600	Weak transcription	Colonic Mucosa	Colon
26	chr11:75534200-75539200	Enhancers	Colon Smooth Muscle	Colon
27	chr11:75534800-75542600	Weak transcription	Fetal Thymus	thymus
28	chr11:75534800-75544400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:75534800-75549800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr11:75535000-75547200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:75535200-75543600	Weak transcription	Small Intestine	intestine
32	chr11:75535400-75539600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:75535400-75540400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr11:75535400-75545400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:75535400-75550000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr11:75535400-75560800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr11:75535400-75579000	Weak transcription	Fetal Intestine Large	intestine
38	chr11:75535600-75550800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:75535600-75556200	Weak transcription	A549	lung
40	chr11:75535800-75541600	Weak transcription	Primary T cells from cord blood	blood
41	chr11:75535800-75573800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr11:75536600-75543200	Weak transcription	Right Ventricle	heart
43	chr11:75536800-75540400	Enhancers	Primary B cells from cord blood	blood
44	chr11:75536800-75542600	Weak transcription	Hela-S3	cervix
45	chr11:75536800-75543200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:75536800-75543200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr11:75537000-75539800	Weak transcription	Lung	lung
48	chr11:75537000-75543200	Weak transcription	Spleen	Spleen
49	chr11:75537000-75547000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:75537000-75548800	Weak transcription	Fetal Stomach	stomach

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