Variant report

Variant	rs12443634
Chromosome Location	chr16:81524274-81524275
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81523253..81525338-chr16:81546964..81549202,2	MCF-7	breast:
2	chr16:81520681..81522605-chr16:81522755..81525287,2	MCF-7	breast:
3	chr16:81477859..81481266-chr16:81523834..81526339,3	MCF-7	breast:
4	chr16:81522805..81524809-chr17:56735512..56737887,2	MCF-7	breast:
5	chr16:81522073..81525174-chr16:81527539..81530591,4	MCF-7	breast:
6	chr16:81516881..81521971-chr16:81523389..81527475,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202077	Chromatin interaction
ENSG00000153815	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2317241	0.90[JPT][hapmap]
rs2925979	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs2966085	0.90[JPT][hapmap]
rs2966093	0.86[CHB][hapmap]
rs2966094	0.86[CHB][hapmap]
rs2966095	0.86[CHB][hapmap]
rs2966097	1.00[CHB][hapmap]
rs56823429	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv907010	chr16:81488893-81534790	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv573359	chr16:81509279-81525637	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	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
7	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

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81486600-81525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:81505200-81525600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr16:81506000-81546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:81506600-81547000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr16:81510400-81533200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr16:81511400-81527000	Enhancers	Fetal Muscle Leg	muscle
7	chr16:81512400-81525000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:81515200-81531600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr16:81515200-81532600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:81516200-81525600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr16:81516400-81525800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:81516400-81525800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr16:81516600-81525800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr16:81516800-81525200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr16:81517200-81525600	Weak transcription	Small Intestine	intestine
16	chr16:81517400-81526400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:81517400-81526600	Weak transcription	Hela-S3	cervix
18	chr16:81517400-81531600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr16:81517600-81526800	Genic enhancers	A549	lung
20	chr16:81518200-81525400	Weak transcription	HMEC	breast
21	chr16:81518200-81527000	Weak transcription	Thymus	Thymus
22	chr16:81518400-81525400	Enhancers	NHDF-Ad	bronchial
23	chr16:81519400-81525400	Enhancers	Adipose Nuclei	Adipose
24	chr16:81519600-81532000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr16:81519800-81527200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr16:81520000-81524600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr16:81520200-81524800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr16:81520200-81525600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr16:81520200-81525800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr16:81520400-81532200	Enhancers	Spleen	Spleen
31	chr16:81520600-81525600	Weak transcription	Fetal Heart	heart
32	chr16:81520600-81526800	Weak transcription	Dnd41	blood
33	chr16:81520800-81527400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr16:81521000-81528600	Weak transcription	Primary T cells from cord blood	blood
35	chr16:81521200-81524600	Weak transcription	Pancreas	Pancrea
36	chr16:81521200-81524800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr16:81521200-81524800	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr16:81521200-81525000	Enhancers	Lung	lung
39	chr16:81521200-81525200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr16:81521200-81525800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr16:81521200-81526000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr16:81521400-81525400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr16:81521600-81524800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:81521800-81525000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr16:81522000-81525200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr16:81522000-81526400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr16:81522200-81524600	Enhancers	Primary B cells from peripheral blood	blood
48	chr16:81522200-81528800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr16:81522400-81524600	Enhancers	Primary B cells from cord blood	blood
50	chr16:81522400-81524800	Weak transcription	K562	blood

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