Variant report

Variant	rs7127210
Chromosome Location	chr11:77704282-77704283
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:77529037..77533619-chr11:77704156..77707997,11	MCF-7	breast:
2	chr11:77530218..77533723-chr11:77703658..77708132,10	MCF-7	breast:
3	chr11:77703909..77705487-chr11:77851104..77854100,2	K562	blood:

Variant related genes	Relation type
ENSG00000087884	Chromatin interaction
ENSG00000048649	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1124589	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4945228	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv520740	chr11:77553638-77997936	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv1035753	chr11:77577384-77866386	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv541093	chr11:77577384-77866386	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7127210	INTS4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77661400-77704400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:77666000-77704400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:77688200-77704800	Weak transcription	Stomach Mucosa	stomach
4	chr11:77689000-77704800	Weak transcription	Fetal Heart	heart
5	chr11:77689200-77704800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:77690600-77704400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:77691400-77704800	Weak transcription	Colonic Mucosa	Colon
8	chr11:77696400-77704400	Weak transcription	Fetal Kidney	kidney
9	chr11:77701400-77704400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr11:77701400-77704400	Weak transcription	Esophagus	oesophagus
11	chr11:77701600-77704400	Weak transcription	Ovary	ovary
12	chr11:77701600-77704400	Weak transcription	Right Ventricle	heart
13	chr11:77701600-77704800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:77701600-77704800	Weak transcription	Lung	lung
15	chr11:77701800-77704800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:77702000-77704400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:77702200-77704400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:77702200-77704400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:77702200-77704400	Weak transcription	Fetal Intestine Large	intestine
20	chr11:77702400-77704400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:77702400-77704400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:77702400-77704400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:77702400-77704400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr11:77702400-77704400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:77702400-77704400	Weak transcription	NH-A	brain
26	chr11:77702400-77704400	Weak transcription	Osteobl	bone
27	chr11:77702400-77704600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr11:77702400-77704800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:77702600-77704600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:77702800-77705000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr11:77702800-77705400	Enhancers	Spleen	Spleen
32	chr11:77703000-77704400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:77703000-77704400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:77703000-77704400	Weak transcription	Placenta	Placenta
35	chr11:77703000-77704400	Weak transcription	Fetal Thymus	thymus
36	chr11:77703000-77704800	Weak transcription	Aorta	Aorta
37	chr11:77703000-77704800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:77703000-77705000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr11:77703200-77704800	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr11:77703400-77704400	Weak transcription	Thymus	Thymus
41	chr11:77703600-77704400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:77703600-77705000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr11:77703800-77704400	Enhancers	Liver	Liver
44	chr11:77703800-77704400	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr11:77703800-77704600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:77703800-77704800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:77704000-77704400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:77704000-77704400	Enhancers	Brain Anterior Caudate	brain
49	chr11:77704000-77704400	Enhancers	Duodenum Mucosa	Duodenum
50	chr11:77704000-77704400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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