Variant report

Variant	rs59114665
Chromosome Location	chr3:196433506-196433507
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	chr3:196431972..196434130-chr3:196554088..196556513,2	MCF-7	breast:
2	chr3:196431863..196435198-chr3:196667357..196669978,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114503	Chromatin interaction
ENSG00000270170	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs60126648	1.00[EUR][1000 genomes]
rs73892919	1.00[EUR][1000 genomes]
rs73892931	1.00[EUR][1000 genomes]
rs7617002	1.00[EUR][1000 genomes]
rs7626116	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv1014692	chr3:196242249-196531824	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv878187	chr3:196245603-196554790	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS 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	47 gene(s)	inside rSNPs	diseases
4	nsv491864	chr3:196263064-196468533	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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 target site	43 gene(s)	inside rSNPs	diseases
5	nsv829828	chr3:196268121-196463641	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv1010643	chr3:196288064-196788645	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv878188	chr3:196312124-196553867	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1003135	chr3:196348721-196738953	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
9	nsv1013920	chr3:196370580-196452741	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1014526	chr3:196372422-196460169	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv1008083	chr3:196374919-196460768	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv536897	chr3:196374919-196460768	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv878189	chr3:196379916-196452093	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv997965	chr3:196380144-196550222	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers 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	22 gene(s)	inside rSNPs	diseases
15	nsv1009975	chr3:196407281-196549742	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
16	nsv1001045	chr3:196429953-196627255	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196412200-196438200	Weak transcription	Right Atrium	heart
2	chr3:196422400-196436600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr3:196422400-196437600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr3:196422400-196437600	Weak transcription	GM12878-XiMat	blood
5	chr3:196422400-196438200	Weak transcription	Esophagus	oesophagus
6	chr3:196422600-196437200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr3:196422600-196437400	Weak transcription	Fetal Thymus	thymus
8	chr3:196429600-196437200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:196430600-196438000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:196432200-196437800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:196432200-196437800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr3:196432200-196438200	Weak transcription	Brain Anterior Caudate	brain
13	chr3:196432400-196437400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:196432800-196433600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr3:196432800-196434400	Enhancers	Fetal Intestine Large	intestine
16	chr3:196433000-196433600	Enhancers	Primary B cells from cord blood	blood
17	chr3:196433000-196433600	Enhancers	Fetal Intestine Small	intestine
18	chr3:196433000-196434000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr3:196433200-196433800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
20	chr3:196433200-196433800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr3:196433200-196433800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:196433200-196433800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:196433400-196433600	Enhancers	Primary hematopoietic stem cells	blood
24	chr3:196433400-196434400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:196433400-196434600	Enhancers	NHEK	skin
26	chr3:196433400-196438200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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