Variant report

Variant	rs7116487
Chromosome Location	chr11:47588300-47588301
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr11:47586468-47588437	K562	blood:	n/a	chr11:47586780-47586791 chr11:47588291-47588305 chr11:47587572-47587581 chr11:47588137-47588149
2	GATA3	chr11:47588295-47588711	SK-N-SH	brain:	n/a	chr11:47588534-47588542 chr11:47588532-47588545
3	HCFC1	chr11:47586447-47588702	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47535507..47539459-chr11:47585714..47589149,4	MCF-7	breast:
2	chr11:47545148..47547980-chr11:47586701..47589133,2	MCF-7	breast:
3	chr11:47586403..47589804-chr11:47615450..47617603,3	MCF-7	breast:
4	chr11:47571371..47576564-chr11:47585605..47588889,10	MCF-7	breast:
5	chr11:47586161..47588765-chr11:47660200..47662976,2	MCF-7	breast:
6	chr11:47416151..47418895-chr11:47586699..47588478,2	MCF-7	breast:
7	chr11:47515223..47517618-chr11:47586025..47588780,2	K562	blood:
8	chr11:47586895..47590126-chr11:47609798..47613644,4	MCF-7	breast:
9	chr11:47585423..47588969-chr11:47597747..47604797,13	K562	blood:
10	chr11:47571923..47578059-chr11:47583779..47591283,17	MCF-7	breast:
11	chr11:47587234..47588763-chr11:47607056..47608888,2	MCF-7	breast:

Variant related genes	Relation type
CELF1	TF binding region
ENSG00000172247	Chromatin interaction
ENSG00000200376	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000270072	Chromatin interaction
ENSG00000196666	Chromatin interaction
ENSG00000109919	Chromatin interaction
ENSG00000231880	Chromatin interaction
ENSG00000123444	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10160313	1.00[AFR][1000 genomes]
rs1040199	1.00[AFR][1000 genomes]
rs10769261	1.00[YRI][hapmap]
rs10769273	1.00[AFR][1000 genomes]
rs2233358	1.00[AFR][1000 genomes]
rs2868603	1.00[YRI][hapmap]
rs35920762	1.00[AFR][1000 genomes]
rs4752991	1.00[YRI][hapmap]
rs4752995	1.00[YRI][hapmap]
rs6485754	1.00[YRI][hapmap]
rs6485757	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7105005	1.00[YRI][hapmap]
rs7118918	1.00[AFR][1000 genomes]
rs7121406	0.83[AFR][1000 genomes]
rs7932169	1.00[AFR][1000 genomes]
rs7933674	1.00[AFR][1000 genomes]
rs7940413	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs963331	1.00[YRI][hapmap]
rs9666418	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs967829	1.00[AFR][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	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47586200-47588400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr11:47586400-47588400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:47586400-47588400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr11:47586400-47588400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:47586400-47588400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr11:47586400-47588400	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr11:47586400-47588600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr11:47586400-47588600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr11:47586400-47588600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr11:47586400-47588600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:47586600-47588400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:47586600-47588600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:47586800-47588400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr11:47586800-47588400	Active TSS	NHLF	lung
15	chr11:47586800-47588600	Active TSS	A549	lung
16	chr11:47587000-47588400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:47587000-47588400	Active TSS	K562	blood
18	chr11:47587000-47588600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:47587400-47588400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr11:47587400-47588400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:47587400-47588400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:47587400-47588600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:47587600-47588400	Enhancers	Fetal Brain Male	brain
24	chr11:47587600-47588400	Flanking Active TSS	Fetal Muscle Leg	muscle
25	chr11:47587600-47588400	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr11:47587600-47588800	Flanking Active TSS	Dnd41	blood
27	chr11:47587800-47588400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:47587800-47588400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:47587800-47588400	Flanking Active TSS	Liver	Liver
30	chr11:47587800-47588400	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr11:47587800-47588400	Enhancers	Fetal Heart	heart
32	chr11:47587800-47588400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr11:47587800-47588400	Enhancers	Stomach Mucosa	stomach
34	chr11:47587800-47588400	Flanking Active TSS	Osteobl	bone
35	chr11:47587800-47588600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:47587800-47588600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr11:47587800-47588600	Flanking Active TSS	HUVEC	blood vessel
38	chr11:47587800-47591400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:47588000-47588400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:47588000-47588400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:47588000-47588400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:47588000-47588400	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr11:47588000-47588400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr11:47588000-47588400	Flanking Active TSS	Fetal Kidney	kidney
45	chr11:47588000-47588400	Enhancers	Spleen	Spleen
46	chr11:47588000-47588400	Flanking Active TSS	HMEC	breast
47	chr11:47588000-47588600	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr11:47588000-47588600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
49	chr11:47588000-47588600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr11:47588000-47588600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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