Variant report

Variant	rs9972899
Chromosome Location	chr17:37711565-37711566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37709600..37711661-chr17:37728844..37731443,2	MCF-7	breast:
2	chr17:37710067..37711965-chr17:37714224..37715872,2	MCF-7	breast:
3	chr17:37711283..37715258-chr17:37721967..37725007,4	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs16965115	0.94[LWK][hapmap];0.80[MKK][hapmap]
rs17634758	1.00[EUR][1000 genomes]
rs4404103	0.91[LWK][hapmap]
rs55703686	0.81[EUR][1000 genomes]
rs55844295	1.00[EUR][1000 genomes]
rs5638	1.00[CEU][hapmap]
rs57418114	0.83[EUR][1000 genomes]
rs57489670	0.81[EUR][1000 genomes]
rs58225361	0.81[EUR][1000 genomes]
rs58467767	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58850789	1.00[EUR][1000 genomes]
rs59329213	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59743097	0.81[EUR][1000 genomes]
rs60333790	1.00[EUR][1000 genomes]
rs60407362	0.83[AFR][1000 genomes]
rs60506770	1.00[EUR][1000 genomes]
rs61749873	1.00[EUR][1000 genomes]
rs67274822	0.83[AFR][1000 genomes]
rs7226073	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73291305	0.81[EUR][1000 genomes]
rs73291310	0.81[EUR][1000 genomes]
rs73294950	1.00[EUR][1000 genomes]
rs73294997	1.00[EUR][1000 genomes]
rs73298796	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73300732	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73302552	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73302557	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73302588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73302601	1.00[EUR][1000 genomes]
rs73304305	0.83[EUR][1000 genomes]
rs73985210	1.00[EUR][1000 genomes]
rs8068497	0.83[AFR][1000 genomes]
rs8076041	0.86[ASW][hapmap];0.94[LWK][hapmap];0.80[MKK][hapmap];0.95[YRI][hapmap]
rs9532	1.00[CEU][hapmap]
rs9889354	1.00[CHD][hapmap]
rs9896679	1.00[CEU][hapmap]
rs9913626	1.00[CEU][hapmap]
rs998480	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers 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	72 gene(s)	inside rSNPs	diseases
3	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
8	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv521294	chr17:37694709-37804858	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37683800-37719400	Weak transcription	Psoas Muscle	Psoas
2	chr17:37687800-37729800	Weak transcription	Small Intestine	intestine
3	chr17:37688400-37711600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr17:37688400-37711600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:37689000-37719400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr17:37689200-37711600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr17:37693000-37719200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr17:37695400-37727400	Weak transcription	K562	blood
9	chr17:37695800-37712400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr17:37695800-37723200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr17:37699800-37714800	Strong transcription	Ovary	ovary
12	chr17:37700200-37725800	Strong transcription	Placenta	Placenta
13	chr17:37701000-37714600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr17:37701000-37714800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr17:37701000-37714800	Strong transcription	Brain Anterior Caudate	brain
16	chr17:37701000-37719400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:37701000-37728800	Strong transcription	Liver	Liver
18	chr17:37701200-37727600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr17:37702400-37717600	Strong transcription	Thymus	Thymus
20	chr17:37702600-37715000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr17:37702800-37714400	Strong transcription	Fetal Intestine Large	intestine
22	chr17:37702800-37714600	Strong transcription	Lung	lung
23	chr17:37702800-37714800	Strong transcription	Fetal Thymus	thymus
24	chr17:37702800-37714800	Strong transcription	Spleen	Spleen
25	chr17:37702800-37716400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr17:37702800-37716600	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr17:37702800-37717800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr17:37702800-37718200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr17:37703200-37714800	Strong transcription	Primary T cells from cord blood	blood
30	chr17:37703800-37714600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr17:37704000-37714600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr17:37704200-37711600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr17:37704200-37712200	Weak transcription	NHDF-Ad	bronchial
34	chr17:37704800-37720400	Weak transcription	Hela-S3	cervix
35	chr17:37705000-37718000	Strong transcription	Adipose Nuclei	Adipose
36	chr17:37705200-37713800	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr17:37705200-37718200	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr17:37705200-37727000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr17:37705200-37727600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr17:37705400-37714600	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr17:37705600-37713200	Strong transcription	Colon Smooth Muscle	Colon
42	chr17:37705600-37714600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr17:37706200-37712400	Strong transcription	Fetal Stomach	stomach
44	chr17:37706600-37711600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr17:37706600-37714600	Strong transcription	Left Ventricle	heart
46	chr17:37706800-37712400	Weak transcription	NHLF	lung
47	chr17:37706800-37727200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr17:37707000-37718600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:37707200-37714600	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr17:37707200-37725400	Strong transcription	Primary neutrophils fromperipheralblood	blood

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