Variant report

Variant	rs11861271
Chromosome Location	chr16:30738305-30738306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30737329..30740063-chr16:30752777..30754336,2	MCF-7	breast:
2	chr16:30708837..30711267-chr16:30737994..30740050,3	MCF-7	breast:
3	chr16:30737025..30739762-chr16:30904130..30907988,3	K562	blood:
4	chr16:30736059..30738815-chr16:30772235..30774878,2	MCF-7	breast:
5	chr16:30737012..30739625-chr16:30773579..30775357,2	K562	blood:
6	chr16:30734959..30739655-chr16:30749627..30752468,4	MCF-7	breast:
7	chr16:30738148..30741438-chr16:30755814..30759116,3	K562	blood:
8	chr16:30734358..30737365-chr16:30737982..30741299,3	MCF-7	breast:
9	chr16:30735335..30739312-chr16:30745767..30748476,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196118	Chromatin interaction
ENSG00000150281	Chromatin interaction
ENSG00000260899	Chromatin interaction
ENSG00000103549	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000262721	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000211591	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10153115	0.96[AFR][1000 genomes]
rs11860318	1.00[AMR][1000 genomes]
rs34946738	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61730189	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
7	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
8	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
9	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
10	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30711400-30751400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:30711400-30757000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr16:30711600-30738800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr16:30711600-30750800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr16:30711600-30752000	Strong transcription	Fetal Lung	lung
6	chr16:30711600-30756200	Strong transcription	Thymus	Thymus
7	chr16:30711800-30738400	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr16:30711800-30738400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:30711800-30739000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr16:30711800-30739200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr16:30711800-30739600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr16:30711800-30757000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr16:30711800-30757200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:30712000-30756600	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr16:30712200-30754200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:30712200-30755000	Strong transcription	Fetal Muscle Trunk	muscle
17	chr16:30712200-30757400	Strong transcription	Fetal Stomach	stomach
18	chr16:30712200-30758800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr16:30712400-30751200	Strong transcription	Left Ventricle	heart
20	chr16:30712400-30751600	Strong transcription	Fetal Muscle Leg	muscle
21	chr16:30714400-30739800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr16:30715000-30751800	Strong transcription	Brain Germinal Matrix	brain
23	chr16:30721600-30756800	Strong transcription	Fetal Thymus	thymus
24	chr16:30725200-30740600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr16:30725200-30742400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr16:30725200-30742400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:30725200-30750600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:30725200-30750800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr16:30725200-30751000	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr16:30725200-30751800	Weak transcription	Right Atrium	heart
31	chr16:30725400-30750400	Strong transcription	HUVEC	blood vessel
32	chr16:30726600-30750400	Strong transcription	Hela-S3	cervix
33	chr16:30727200-30743400	Strong transcription	A549	lung
34	chr16:30727200-30750600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr16:30727400-30751000	Strong transcription	Osteobl	bone
36	chr16:30727400-30751200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr16:30727600-30750800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:30727600-30751000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:30727600-30757000	Strong transcription	Dnd41	blood
40	chr16:30727800-30740400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr16:30727800-30752200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr16:30728000-30751000	Strong transcription	NH-A	brain
43	chr16:30728400-30750800	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr16:30728800-30757000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr16:30729800-30739200	Strong transcription	Primary hematopoietic stem cells	blood
46	chr16:30730000-30753600	Strong transcription	Brain Angular Gyrus	brain
47	chr16:30730200-30740600	Strong transcription	GM12878-XiMat	blood
48	chr16:30730200-30751200	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr16:30730800-30738600	Strong transcription	HepG2	liver
50	chr16:30730800-30749800	Strong transcription	K562	blood

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