Variant report

Variant	rs2530
Chromosome Location	chr16:81601751-81601752
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81477018..81482401-chr16:81598968..81605345,9	MCF-7	breast:
2	chr16:81589280..81593699-chr16:81599147..81604604,6	MCF-7	breast:
3	chr16:81599256..81602188-chr16:81606327..81608500,2	MCF-7	breast:
4	chr16:81501153..81503002-chr16:81601427..81603985,2	K562	blood:
5	chr16:81572606..81575299-chr16:81599746..81602718,2	MCF-7	breast:
6	chr16:81600677..81603897-chr16:81613066..81616910,4	MCF-7	breast:
7	chr16:81586835..81588438-chr16:81601236..81603502,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12443555	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12444016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2287112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer 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	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1062659	chr16:81547280-81668786	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	esv2754804	chr16:81579729-81606569	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1898	chr16:81581637-81626505	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv573361	chr16:81591496-81610722	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv524589	chr16:81592934-81609298	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv573362	chr16:81592934-81609298	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv2752604	chr16:81595597-81606569	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81581600-81608400	Weak transcription	Primary B cells from cord blood	blood
2	chr16:81585200-81602000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:81585600-81628600	Weak transcription	GM12878-XiMat	blood
4	chr16:81587000-81603800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:81588200-81640800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr16:81589200-81601800	Weak transcription	Left Ventricle	heart
7	chr16:81590600-81602000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:81592400-81601800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr16:81593200-81619400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:81593200-81621000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr16:81593200-81622400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:81593200-81641200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr16:81593400-81619200	Weak transcription	K562	blood
14	chr16:81594200-81601800	Weak transcription	Placenta	Placenta
15	chr16:81594400-81606200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr16:81596400-81601800	Weak transcription	Right Atrium	heart
17	chr16:81596400-81601800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr16:81596600-81601800	Weak transcription	Ovary	ovary
19	chr16:81596600-81601800	Weak transcription	Small Intestine	intestine
20	chr16:81597200-81601800	Weak transcription	Right Ventricle	heart
21	chr16:81597600-81601800	Weak transcription	Lung	lung
22	chr16:81598000-81602000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr16:81598200-81603400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr16:81598200-81609200	Weak transcription	Brain Angular Gyrus	brain
25	chr16:81598400-81601800	Weak transcription	NH-A	brain
26	chr16:81598400-81603600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr16:81598600-81602000	Weak transcription	Brain Substantia Nigra	brain
28	chr16:81598600-81609200	Genic enhancers	HepG2	liver
29	chr16:81598800-81601800	Weak transcription	Adipose Nuclei	Adipose
30	chr16:81599000-81601800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:81599000-81608600	Genic enhancers	Fetal Intestine Small	intestine
32	chr16:81599000-81633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr16:81599200-81601800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr16:81599200-81601800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr16:81599200-81602000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr16:81599200-81603800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr16:81599200-81604400	Enhancers	Fetal Intestine Large	intestine
38	chr16:81599200-81614600	Weak transcription	Fetal Kidney	kidney
39	chr16:81599400-81602000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr16:81599600-81601800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr16:81599600-81602000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr16:81599600-81605600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr16:81600000-81601800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr16:81600000-81601800	Weak transcription	Fetal Brain Male	brain
45	chr16:81600400-81601800	Weak transcription	Stomach Mucosa	stomach
46	chr16:81600400-81616200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr16:81600600-81602600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr16:81600600-81603400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr16:81600800-81601800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr16:81600800-81601800	Genic enhancers	NHEK	skin

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