Variant report

Variant	rs4968854
Chromosome Location	chr17:67303978-67303979
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	chr17:67302738..67306142-chr17:67312679..67315678,3	MCF-7	breast:
2	chr17:67302832..67306346-chr17:67321797..67325175,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154265	Chromatin interaction
ENSG00000267203	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1476749	0.90[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap]
rs16973883	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16973905	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17776943	0.82[CEU][hapmap];0.85[AMR][1000 genomes]
rs28496489	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28592152	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4553686	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58324131	0.85[AMR][1000 genomes]
rs7208451	0.92[CEU][hapmap];0.88[CHB][hapmap];0.91[EUR][1000 genomes]
rs7225918	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73998226	0.82[EUR][1000 genomes]
rs9302899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9889277	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9895649	0.82[CEU][hapmap];0.88[CHB][hapmap]
rs9908248	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9910364	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9912665	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv575932	chr17:67149973-67327806	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats 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	15 gene(s)	inside rSNPs	diseases
2	nsv457889	chr17:67210992-67332355	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
3	nsv575934	chr17:67210992-67332355	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
4	nsv833527	chr17:67240575-67400871	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv575935	chr17:67256162-67327806	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
6	nsv457890	chr17:67264339-67327806	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
7	nsv575936	chr17:67264339-67327806	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
8	nsv1063768	chr17:67268342-67311136	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
9	esv1799828	chr17:67280310-67309039	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
10	nsv908706	chr17:67290840-67332355	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67243600-67305600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:67244000-67321800	Weak transcription	Right Ventricle	heart
3	chr17:67261400-67322000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:67266200-67310400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr17:67270200-67307400	Weak transcription	Colonic Mucosa	Colon
6	chr17:67272400-67306400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr17:67276400-67310600	Weak transcription	Brain Substantia Nigra	brain
8	chr17:67276600-67308800	Weak transcription	Aorta	Aorta
9	chr17:67279400-67308000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr17:67279600-67306400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr17:67280000-67307200	Weak transcription	Fetal Thymus	thymus
12	chr17:67283600-67304800	Weak transcription	NHDF-Ad	bronchial
13	chr17:67283800-67312800	Weak transcription	HMEC	breast
14	chr17:67284000-67312800	Weak transcription	NHEK	skin
15	chr17:67284600-67309200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:67285000-67316200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr17:67289600-67307000	Weak transcription	Spleen	Spleen
18	chr17:67289600-67307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:67289600-67310400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr17:67289800-67310400	Weak transcription	Brain Anterior Caudate	brain
21	chr17:67289800-67310800	Weak transcription	Colon Smooth Muscle	Colon
22	chr17:67289800-67312800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr17:67290000-67305800	Weak transcription	Thymus	Thymus
24	chr17:67290000-67306200	Weak transcription	Primary T cells from cord blood	blood
25	chr17:67290000-67308200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr17:67290000-67310600	Weak transcription	Brain Angular Gyrus	brain
27	chr17:67290000-67311000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr17:67290000-67311000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr17:67290000-67317400	Weak transcription	Gastric	stomach
30	chr17:67290200-67306800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr17:67290200-67308000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr17:67290200-67319600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr17:67290400-67305600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr17:67290600-67305200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr17:67290600-67305600	Weak transcription	Pancreas	Pancrea
36	chr17:67290600-67305600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr17:67290600-67309200	Weak transcription	Lung	lung
38	chr17:67290600-67312800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr17:67291000-67305400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr17:67291800-67305600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr17:67291800-67309400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr17:67291800-67313800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr17:67291800-67321800	Weak transcription	Esophagus	oesophagus
44	chr17:67293200-67315600	Weak transcription	GM12878-XiMat	blood
45	chr17:67294000-67310600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr17:67294200-67305600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr17:67295800-67307600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr17:67296600-67310600	Weak transcription	Ovary	ovary
49	chr17:67296800-67305000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr17:67296800-67305400	Weak transcription	Duodenum Mucosa	Duodenum

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