Variant report

Variant	rs2317241
Chromosome Location	chr16:81519766-81519767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81517573..81519911-chr16:81525610..81528257,2	MCF-7	breast:
2	chr16:81516881..81521971-chr16:81523389..81527475,7	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12443634	0.90[JPT][hapmap]
rs1563654	0.90[JPT][hapmap]
rs2927322	0.91[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2927323	0.91[CEU][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2927328	0.81[ASN][1000 genomes]
rs2966081	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2966084	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2966085	0.82[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2966086	1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs898969	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2317241	ATMIN	cis	lymphoblastoid	seeQTL

Chromatin state (count:111 , 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	chr16:81505400-81521800	Weak transcription	Fetal Kidney	kidney
4	chr16:81505800-81523600	Weak transcription	Fetal Brain Male	brain
5	chr16:81506000-81546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:81506600-81547000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr16:81510400-81522400	Weak transcription	Fetal Brain Female	brain
8	chr16:81510400-81533200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr16:81510600-81521200	Enhancers	Stomach Mucosa	stomach
10	chr16:81511400-81527000	Enhancers	Fetal Muscle Leg	muscle
11	chr16:81512400-81525000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:81514200-81519800	Genic enhancers	Fetal Intestine Small	intestine
13	chr16:81514400-81519800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:81514800-81522200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:81515000-81521400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:81515200-81531600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr16:81515200-81532600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr16:81515400-81519800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:81515400-81519800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr16:81515400-81519800	Enhancers	Duodenum Mucosa	Duodenum
21	chr16:81515800-81523800	Enhancers	Brain Hippocampus Middle	brain
22	chr16:81516000-81519800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:81516200-81525600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr16:81516400-81521400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:81516400-81525800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr16:81516400-81525800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr16:81516600-81519800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr16:81516600-81520000	Genic enhancers	K562	blood
29	chr16:81516600-81521200	Weak transcription	Brain Substantia Nigra	brain
30	chr16:81516600-81521800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:81516600-81525800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr16:81516800-81521200	Enhancers	Colonic Mucosa	Colon
33	chr16:81516800-81525200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr16:81517000-81519800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr16:81517000-81519800	Enhancers	Fetal Intestine Large	intestine
36	chr16:81517000-81520800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr16:81517000-81521200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr16:81517000-81522800	Weak transcription	Brain Germinal Matrix	brain
39	chr16:81517000-81523000	Weak transcription	GM12878-XiMat	blood
40	chr16:81517200-81519800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr16:81517200-81520400	Weak transcription	Pancreas	Pancrea
42	chr16:81517200-81521200	Weak transcription	Colon Smooth Muscle	Colon
43	chr16:81517200-81525600	Weak transcription	Small Intestine	intestine
44	chr16:81517400-81520200	Weak transcription	Primary T cells from cord blood	blood
45	chr16:81517400-81520200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr16:81517400-81520400	Weak transcription	Right Ventricle	heart
47	chr16:81517400-81521200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr16:81517400-81526400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr16:81517400-81526600	Weak transcription	Hela-S3	cervix
50	chr16:81517400-81531600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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