Variant report

Variant	rs61112413
Chromosome Location	chr17:19213086-19213087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19139765..19142686-chr17:19211998..19214972,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072134	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12073	0.82[AFR][1000 genomes]
rs61668687	0.82[AFR][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	nsv1062260	chr17:18874195-19239087	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv543251	chr17:18874195-19239087	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv833393	chr17:19050263-19265108	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	esv3524490	chr17:19081310-19257974	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	esv3524491	chr17:19081310-19257974	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1064651	chr17:19142280-19349054	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
7	nsv1057927	chr17:19152728-19431280	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
8	nsv543252	chr17:19152728-19431280	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	esv1828682	chr17:19168912-19358443	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
10	nsv482384	chr17:19192964-19354971	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19176400-19215200	Weak transcription	Fetal Brain Male	brain
2	chr17:19187200-19215000	Weak transcription	Hela-S3	cervix
3	chr17:19187600-19215200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr17:19192200-19214400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr17:19193800-19215200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr17:19193800-19215400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:19194000-19215200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr17:19194600-19214600	Weak transcription	Fetal Kidney	kidney
9	chr17:19202400-19213400	Weak transcription	A549	lung
10	chr17:19203400-19220400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:19203600-19213200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr17:19205200-19215800	Enhancers	Primary B cells from cord blood	blood
13	chr17:19206600-19214000	Strong transcription	Stomach Smooth Muscle	stomach
14	chr17:19207200-19229600	Weak transcription	HMEC	breast
15	chr17:19207800-19218800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:19208000-19214400	Weak transcription	Osteobl	bone
17	chr17:19208000-19215200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:19208000-19215400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr17:19208200-19214200	Weak transcription	NHLF	lung
20	chr17:19208200-19214400	Weak transcription	NH-A	brain
21	chr17:19208200-19215000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr17:19208200-19220400	Weak transcription	HSMM	muscle
23	chr17:19209000-19214200	Weak transcription	HUVEC	blood vessel
24	chr17:19209400-19213200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr17:19209600-19214000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr17:19209600-19215400	Enhancers	Brain Substantia Nigra	brain
27	chr17:19209600-19215400	Weak transcription	Colon Smooth Muscle	Colon
28	chr17:19209800-19213200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr17:19209800-19215400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr17:19210000-19213200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr17:19210000-19213200	Weak transcription	Adipose Nuclei	Adipose
32	chr17:19210000-19213200	Weak transcription	Ovary	ovary
33	chr17:19210000-19213200	Weak transcription	Pancreas	Pancrea
34	chr17:19210000-19213200	Weak transcription	Right Atrium	heart
35	chr17:19210000-19215000	Weak transcription	Liver	Liver
36	chr17:19210000-19215200	Enhancers	Brain Angular Gyrus	brain
37	chr17:19210000-19215200	Weak transcription	NHDF-Ad	bronchial
38	chr17:19210200-19213200	Weak transcription	Spleen	Spleen
39	chr17:19210200-19213600	Weak transcription	Aorta	Aorta
40	chr17:19210200-19214000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr17:19210200-19215000	Weak transcription	HSMMtube	muscle
42	chr17:19210200-19215200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr17:19210200-19215400	Weak transcription	Colonic Mucosa	Colon
44	chr17:19210200-19216600	Weak transcription	K562	blood
45	chr17:19210200-19238800	Weak transcription	Small Intestine	intestine
46	chr17:19210400-19213200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr17:19210400-19223000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr17:19210600-19213200	Weak transcription	HepG2	liver
49	chr17:19210600-19215000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr17:19210800-19214200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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