Variant report

Variant	rs17114327
Chromosome Location	chr10:90711743-90711744
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	chr10:90697471..90699634-chr10:90711409..90714221,2	K562	blood:
2	chr10:90694957..90695602-chr10:90711260..90711824,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180139	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10887867	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10887870	0.98[EUR][1000 genomes]
rs11202890	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11202897	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs11202898	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs11202899	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs11202902	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs11202906	1.00[CEU][hapmap];0.90[YRI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11202907	1.00[CEU][hapmap];0.90[YRI][hapmap];0.95[EUR][1000 genomes]
rs11591231	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs11595119	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11596205	0.83[EUR][1000 genomes]
rs1214564	0.82[CEU][hapmap]
rs12241401	0.82[EUR][1000 genomes]
rs12248284	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12254084	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12254856	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs12256739	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs12264840	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12267680	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs1441738	0.90[EUR][1000 genomes]
rs17114152	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17114339	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs1977388	0.90[EUR][1000 genomes]
rs2119685	1.00[CEU][hapmap];0.90[YRI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2439707	0.82[CEU][hapmap]
rs2481918	0.82[CEU][hapmap]
rs3758486	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs41284106	0.84[EUR][1000 genomes]
rs41317244	0.82[EUR][1000 genomes]
rs4431933	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs45493098	0.84[EUR][1000 genomes]
rs56104559	0.83[EUR][1000 genomes]
rs56228317	0.82[EUR][1000 genomes]
rs56268252	0.82[EUR][1000 genomes]
rs57807025	0.83[EUR][1000 genomes]
rs59737591	0.83[EUR][1000 genomes]
rs66478243	0.83[EUR][1000 genomes]
rs7078383	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7085698	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7090631	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7098235	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs72809310	0.82[EUR][1000 genomes]
rs72809311	0.82[EUR][1000 genomes]
rs72809314	0.82[EUR][1000 genomes]
rs72809318	0.82[EUR][1000 genomes]
rs72809324	0.90[EUR][1000 genomes]
rs72809325	0.90[EUR][1000 genomes]
rs72809335	0.83[EUR][1000 genomes]
rs72809337	0.84[EUR][1000 genomes]
rs72809342	0.84[EUR][1000 genomes]
rs7897521	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7915393	1.00[CEU][hapmap];0.97[EUR][1000 genomes]

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	nsv529324	chr10:90198865-90738588	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv831942	chr10:90564697-90730352	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831943	chr10:90664836-90865834	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90695800-90720800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr10:90699000-90724200	Weak transcription	Small Intestine	intestine
3	chr10:90699400-90715400	Weak transcription	HepG2	liver
4	chr10:90699600-90712200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:90699600-90721800	Weak transcription	Fetal Thymus	thymus
6	chr10:90700000-90712000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr10:90701400-90720800	Weak transcription	Primary T cells from cord blood	blood
8	chr10:90704000-90721400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr10:90705000-90721800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr10:90705800-90712800	Weak transcription	Primary B cells from cord blood	blood
11	chr10:90707000-90713200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr10:90707800-90712400	Active TSS	HSMMtube	muscle
13	chr10:90708400-90713000	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr10:90708600-90712400	Active TSS	Fetal Intestine Large	intestine
15	chr10:90708800-90712800	Active TSS	Fetal Intestine Small	intestine
16	chr10:90708800-90713600	Active TSS	Stomach Smooth Muscle	stomach
17	chr10:90709000-90712200	Active TSS	Colon Smooth Muscle	Colon
18	chr10:90709000-90713200	Active TSS	Aorta	Aorta
19	chr10:90709200-90712800	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr10:90709600-90713000	Flanking Active TSS	Osteobl	bone
21	chr10:90709800-90712200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:90709800-90712400	Active TSS	Duodenum Mucosa	Duodenum
23	chr10:90709800-90712800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:90710000-90712200	Active TSS	Colonic Mucosa	Colon
25	chr10:90710000-90712400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:90710000-90712400	Active TSS	Right Ventricle	heart
27	chr10:90710000-90712800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr10:90710000-90713000	Active TSS	Ovary	ovary
29	chr10:90710200-90712400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr10:90710200-90712400	Active TSS	Psoas Muscle	Psoas
31	chr10:90710200-90712800	Flanking Active TSS	HSMM	muscle
32	chr10:90710200-90713000	Flanking Active TSS	Fetal Lung	lung
33	chr10:90710400-90712400	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr10:90710400-90713000	Flanking Active TSS	Fetal Heart	heart
35	chr10:90710600-90711800	Flanking Active TSS	NH-A	brain
36	chr10:90710600-90712000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr10:90710600-90712200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr10:90710800-90711800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr10:90710800-90711800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr10:90710800-90712000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr10:90710800-90712000	Enhancers	Liver	Liver
42	chr10:90710800-90712000	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr10:90710800-90712400	Active TSS	Fetal Muscle Trunk	muscle
44	chr10:90710800-90712600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr10:90710800-90712800	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr10:90710800-90713000	Active TSS	Brain Hippocampus Middle	brain
47	chr10:90711000-90711800	Enhancers	Fetal Brain Male	brain
48	chr10:90711000-90712000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr10:90711000-90712000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr10:90711000-90712000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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