Variant report

Variant	rs12444594
Chromosome Location	chr16:71941912-71941913
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71936147..71938955-chr16:71940995..71943560,3	K562	blood:
2	chr16:71935084..71939148-chr16:71940742..71943811,5	MCF-7	breast:
3	chr16:71939657..71941928-chr16:71953467..71955227,2	K562	blood:
4	chr16:71940255..71943014-chr16:71946891..71948795,2	MCF-7	breast:
5	chr16:71933405..71937193-chr16:71939159..71943581,7	MCF-7	breast:
6	chr16:71941557..71944362-chr16:71947256..71950038,2	K562	blood:

Variant related genes	Relation type
ENSG00000182149	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11075910	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12708918	0.86[EUR][1000 genomes]
rs12708919	0.86[EUR][1000 genomes]
rs1834036	0.91[EUR][1000 genomes]
rs2288030	0.94[EUR][1000 genomes]
rs35619990	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4788450	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4788561	0.91[EUR][1000 genomes]
rs4788568	0.94[EUR][1000 genomes]
rs4788569	0.94[EUR][1000 genomes]
rs4788575	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4788579	0.96[EUR][1000 genomes]
rs8044004	0.91[EUR][1000 genomes]
rs8044335	0.91[EUR][1000 genomes]
rs9932707	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv906893	chr16:71922663-71988728	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71930800-71943200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr16:71930800-71944200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr16:71930800-71950000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:71930800-71951800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:71931000-71942800	Weak transcription	Fetal Heart	heart
6	chr16:71931000-71949400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:71931000-71949600	Weak transcription	NHEK	skin
8	chr16:71931200-71942800	Weak transcription	HSMM	muscle
9	chr16:71931200-71943000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr16:71931200-71943000	Weak transcription	Fetal Lung	lung
11	chr16:71931200-71943000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr16:71931200-71943200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr16:71931200-71944800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr16:71931200-71946600	Weak transcription	A549	lung
15	chr16:71931200-71949800	Weak transcription	Esophagus	oesophagus
16	chr16:71931200-71950000	Weak transcription	HMEC	breast
17	chr16:71931200-71956200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr16:71931400-71942600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr16:71931400-71949400	Weak transcription	Fetal Kidney	kidney
20	chr16:71931600-71942400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr16:71931600-71944400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr16:71932000-71942600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr16:71932000-71942600	Weak transcription	Thymus	Thymus
24	chr16:71932000-71942800	Weak transcription	Hela-S3	cervix
25	chr16:71932000-71943200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr16:71932400-71943000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr16:71932600-71942600	Weak transcription	Gastric	stomach
28	chr16:71932600-71951800	Weak transcription	Colonic Mucosa	Colon
29	chr16:71932800-71942600	Weak transcription	Fetal Thymus	thymus
30	chr16:71933200-71942600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr16:71933400-71942600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr16:71933400-71948400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr16:71933400-71949000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr16:71933400-71950200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr16:71934000-71943000	Weak transcription	Lung	lung
36	chr16:71934200-71949600	Weak transcription	Placenta	Placenta
37	chr16:71934400-71943000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr16:71934400-71945600	Weak transcription	Aorta	Aorta
39	chr16:71934400-71951000	Weak transcription	Fetal Brain Male	brain
40	chr16:71934600-71942000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr16:71934600-71942400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr16:71934600-71943200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:71934600-71943200	Weak transcription	NHDF-Ad	bronchial
44	chr16:71934600-71943400	Weak transcription	Colon Smooth Muscle	Colon
45	chr16:71934600-71946600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr16:71934600-71948400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr16:71934600-71948800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr16:71934600-71949000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr16:71934600-71949600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr16:71934800-71942600	Weak transcription	Brain Anterior Caudate	brain

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