Variant report

Variant	rs17439833
Chromosome Location	chr8:118843121-118843122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118836744..118839652-chr8:118842920..118845860,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10089630	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10094527	0.86[YRI][hapmap]
rs10098795	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10103242	0.85[YRI][hapmap]
rs10103734	0.86[YRI][hapmap]
rs10105753	0.86[YRI][hapmap]
rs10107623	0.86[YRI][hapmap]
rs10109017	0.81[YRI][hapmap]
rs10110445	0.87[ASN][1000 genomes]
rs10111197	0.86[YRI][hapmap]
rs10113092	0.86[YRI][hapmap]
rs10156308	0.94[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10955836	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs12682457	0.89[CEU][hapmap]
rs17430154	0.86[YRI][hapmap]
rs17430175	0.86[YRI][hapmap]
rs17430182	0.86[YRI][hapmap]
rs17430252	0.86[YRI][hapmap]
rs17430266	0.89[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17430273	0.81[YRI][hapmap]
rs17430294	0.86[YRI][hapmap]
rs17430301	0.86[YRI][hapmap]
rs17430315	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17439784	0.83[CEU][hapmap]
rs17439791	0.86[YRI][hapmap]
rs17439798	0.86[YRI][hapmap]
rs17439812	0.86[YRI][hapmap]
rs17439826	0.89[CEU][hapmap]
rs17439840	0.86[YRI][hapmap]
rs17450612	0.85[YRI][hapmap]
rs17452687	0.86[YRI][hapmap]
rs17474672	0.86[YRI][hapmap]
rs17474679	0.86[YRI][hapmap]
rs17474902	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs17503377	0.86[YRI][hapmap]
rs17503447	0.86[YRI][hapmap]
rs28357257	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987177	0.86[YRI][hapmap]
rs7000499	0.83[CEU][hapmap]
rs9656922	0.85[YRI][hapmap]

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	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118801000-118843600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:118805600-118849800	Strong transcription	Liver	Liver
3	chr8:118808600-118849400	Weak transcription	Stomach Mucosa	stomach
4	chr8:118810000-118843800	Weak transcription	Fetal Heart	heart
5	chr8:118817200-118852400	Weak transcription	Psoas Muscle	Psoas
6	chr8:118817200-118852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:118819600-118851000	Weak transcription	Fetal Thymus	thymus
8	chr8:118825000-118844800	Weak transcription	Brain Germinal Matrix	brain
9	chr8:118825000-118850000	Weak transcription	Fetal Brain Female	brain
10	chr8:118825200-118848000	Weak transcription	Colonic Mucosa	Colon
11	chr8:118825200-118859600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:118825200-118859800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:118825400-118849200	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:118825400-118849600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:118825400-118852400	Weak transcription	Right Ventricle	heart
16	chr8:118825400-118853200	Weak transcription	Brain Anterior Caudate	brain
17	chr8:118825400-118859000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:118825600-118843800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr8:118825600-118849600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:118825600-118849800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:118825600-118857200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:118825600-118860000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr8:118825800-118846400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:118825800-118850400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:118827200-118847200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr8:118827200-118855000	Weak transcription	Right Atrium	heart
27	chr8:118827800-118844000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:118828600-118857000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:118829200-118847800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:118829800-118855000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:118829800-118859800	Weak transcription	Esophagus	oesophagus
32	chr8:118830800-118843400	Weak transcription	HSMMtube	muscle
33	chr8:118831200-118846200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:118832200-118854800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr8:118832400-118854000	Weak transcription	Gastric	stomach
36	chr8:118832400-118855000	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:118832600-118854400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:118832600-118855000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr8:118832600-118859800	Weak transcription	Spleen	Spleen
40	chr8:118833000-118843600	Weak transcription	Fetal Intestine Small	intestine
41	chr8:118833000-118855000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:118833200-118847600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr8:118833200-118854600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr8:118834000-118851600	Weak transcription	Fetal Brain Male	brain
45	chr8:118834200-118847600	Weak transcription	Lung	lung
46	chr8:118834800-118851800	Weak transcription	Placenta	Placenta
47	chr8:118835000-118847800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:118835000-118859600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr8:118835000-118859600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:118837200-118848800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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