Variant report

Variant	rs10071684
Chromosome Location	chr5:112919221-112919222
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	chr5:112850115..112851621-chr5:112917619..112919519,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10051115	0.86[CEU][hapmap];0.86[CHB][hapmap]
rs10053341	0.95[CEU][hapmap];0.86[CHB][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10056194	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10061462	1.00[CHB][hapmap]
rs10065790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072503	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10077431	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10078214	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241213	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13154300	0.86[CHB][hapmap]
rs13169748	0.91[EUR][1000 genomes]
rs13171630	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13174075	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13174206	1.00[CHB][hapmap]
rs13180516	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13181534	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs13181732	1.00[CHB][hapmap]
rs13182972	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13362189	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13436825	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17327964	1.00[CHB][hapmap]
rs17331844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17388260	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs17389165	0.83[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1816062	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2162841	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2248930	0.86[CHB][hapmap]
rs2914198	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2972689	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2972690	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs33992630	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34147627	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34324763	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs348928	0.86[CHB][hapmap]
rs348929	0.86[CHB][hapmap]
rs348930	0.86[CHB][hapmap]
rs348931	0.86[CHB][hapmap]
rs348932	0.86[CHB][hapmap]
rs348947	0.86[CHB][hapmap]
rs348956	0.86[CHB][hapmap]
rs348961	0.86[CHB][hapmap]
rs348962	0.86[CHB][hapmap]
rs348963	0.86[CHB][hapmap]
rs35093510	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35193208	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35926701	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35933960	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36023163	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs367943	0.86[CHB][hapmap]
rs444322	0.86[CHB][hapmap]
rs455435	0.86[CHB][hapmap]
rs460079	0.86[CHB][hapmap]
rs463167	0.86[CHB][hapmap]
rs463249	0.86[CHB][hapmap]
rs644154	0.86[CHB][hapmap]
rs6594714	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs66540465	0.89[EUR][1000 genomes]
rs66572866	0.81[ASN][1000 genomes]
rs67320720	0.81[ASN][1000 genomes]
rs6867579	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6870401	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs6871934	0.84[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6872490	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6879257	0.91[EUR][1000 genomes]
rs6883102	1.00[CHB][hapmap]
rs6883547	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6887482	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs6889489	0.86[ASN][1000 genomes]
rs6890874	0.84[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71577447	0.81[ASN][1000 genomes]
rs71577448	0.81[ASN][1000 genomes]
rs72792189	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7706721	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7708831	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7714221	0.86[ASN][1000 genomes]
rs7714760	1.00[CHB][hapmap]
rs7718203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718616	1.00[CHB][hapmap]
rs7729269	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs8180416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326891	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][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	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv882724	chr5:112868878-112933202	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv1033202	chr5:112891857-112945992	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv520674	chr5:112911165-112942820	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	esv3433551	chr5:112915953-112919951	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2752057	chr5:112916398-112945992	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv1029507	chr5:112916398-112945992	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
8	esv2763910	chr5:112916398-112951827	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
9	nsv1031336	chr5:112916398-112956588	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
10	esv3367549	chr5:112916403-112920101	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112867400-112926000	Weak transcription	Small Intestine	intestine
2	chr5:112867400-112933000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:112870200-112930800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:112889400-112930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:112898200-112921200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:112899400-112929400	Weak transcription	HepG2	liver
7	chr5:112904600-112934800	Weak transcription	Psoas Muscle	Psoas
8	chr5:112907400-112932000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:112908800-112935200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:112910600-112919800	Weak transcription	NHDF-Ad	bronchial
11	chr5:112910600-112920000	Weak transcription	Brain Anterior Caudate	brain
12	chr5:112910600-112927000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:112910600-112927600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:112910600-112927800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:112910600-112933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:112910600-112935200	Weak transcription	Spleen	Spleen
17	chr5:112910600-112935400	Weak transcription	Colon Smooth Muscle	Colon
18	chr5:112910600-112936600	Weak transcription	Colonic Mucosa	Colon
19	chr5:112910600-112942000	Weak transcription	Brain Substantia Nigra	brain
20	chr5:112910800-112919800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr5:112910800-112919800	Weak transcription	HMEC	breast
22	chr5:112910800-112920000	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr5:112910800-112924400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:112910800-112927600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr5:112910800-112928400	Weak transcription	A549	lung
26	chr5:112910800-112928600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:112910800-112929200	Weak transcription	Right Ventricle	heart
28	chr5:112910800-112929400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:112910800-112930400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:112910800-112933600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr5:112910800-112933600	Weak transcription	Fetal Stomach	stomach
32	chr5:112910800-112934600	Weak transcription	Gastric	stomach
33	chr5:112910800-112935000	Weak transcription	Pancreas	Pancrea
34	chr5:112910800-112935200	Weak transcription	Esophagus	oesophagus
35	chr5:112910800-112937400	Weak transcription	Fetal Intestine Small	intestine
36	chr5:112910800-112938200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:112910800-112942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:112911000-112930000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:112911200-112925400	Weak transcription	Brain Germinal Matrix	brain
40	chr5:112911200-112929000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr5:112913800-112920800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr5:112914000-112922200	Strong transcription	Dnd41	blood
43	chr5:112915200-112922200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:112915200-112922200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:112915200-112922200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr5:112915400-112921400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:112915600-112920600	Strong transcription	Primary B cells from cord blood	blood
48	chr5:112916000-112931400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:112916200-112920000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr5:112916200-112920000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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