Variant report

Variant	rs11927681
Chromosome Location	chr3:142218348-142218349
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	chr3:142217843..142219879-chr3:142296547..142298953,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175054	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11920625	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17552506	0.83[EUR][1000 genomes]
rs62276410	1.00[AFR][1000 genomes]
rs62276413	1.00[AFR][1000 genomes]
rs62276414	1.00[AFR][1000 genomes]
rs62276422	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62276439	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62276447	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62278462	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877556	chr3:141898980-142331360	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv523945	chr3:141933649-142219542	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv877558	chr3:142123841-142331360	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv877559	chr3:142132749-142331360	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv877560	chr3:142132749-142362179	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv877561	chr3:142152925-142331360	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv528954	chr3:142164017-142219542	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv932989	chr3:142204208-142423305	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv933680	chr3:142211643-142287189	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142167400-142234600	Weak transcription	Psoas Muscle	Psoas
2	chr3:142200000-142223200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:142200400-142243800	Weak transcription	Fetal Heart	heart
4	chr3:142200600-142271800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:142200800-142219800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:142201000-142218600	Strong transcription	Fetal Thymus	thymus
7	chr3:142201000-142239600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:142201000-142240600	Weak transcription	Fetal Brain Male	brain
9	chr3:142201200-142226800	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr3:142201600-142218600	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr3:142201600-142219000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:142201600-142273200	Weak transcription	Esophagus	oesophagus
13	chr3:142201800-142240600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:142201800-142243600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr3:142201800-142273800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr3:142202000-142221200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr3:142202000-142223800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:142202000-142231000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:142202000-142235200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr3:142202000-142239600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:142202200-142218600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:142202200-142240200	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:142202400-142219400	Strong transcription	Dnd41	blood
24	chr3:142202800-142219000	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr3:142203000-142255200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr3:142203800-142223000	Weak transcription	Lung	lung
27	chr3:142203800-142225400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:142203800-142255200	Weak transcription	Gastric	stomach
29	chr3:142204200-142228000	Weak transcription	Pancreas	Pancrea
30	chr3:142204200-142253000	Weak transcription	Brain Substantia Nigra	brain
31	chr3:142204200-142273200	Weak transcription	Spleen	Spleen
32	chr3:142204200-142281400	Weak transcription	Colonic Mucosa	Colon
33	chr3:142206600-142219200	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr3:142207400-142238600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr3:142208200-142226600	Strong transcription	Primary B cells from cord blood	blood
36	chr3:142208400-142231000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:142208800-142239600	Weak transcription	Fetal Brain Female	brain
38	chr3:142209000-142225600	Weak transcription	Brain Angular Gyrus	brain
39	chr3:142209400-142271800	Weak transcription	HepG2	liver
40	chr3:142210000-142218400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr3:142210400-142225000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr3:142210400-142231000	Weak transcription	Aorta	Aorta
43	chr3:142210400-142240600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr3:142211200-142223800	Weak transcription	Brain Hippocampus Middle	brain
45	chr3:142211400-142221600	Weak transcription	Small Intestine	intestine
46	chr3:142211400-142222400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:142211400-142226000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr3:142211400-142240600	Weak transcription	Brain Germinal Matrix	brain
49	chr3:142211800-142219200	Weak transcription	NHDF-Ad	bronchial
50	chr3:142212000-142251400	Weak transcription	Brain Anterior Caudate	brain

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