Variant report

Variant	rs35197594
Chromosome Location	chr5:179934994-179934995
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179934009..179936437-chr5:179937326..179939535,2	K562	blood:
2	chr5:179923677..179925323-chr5:179932980..179935315,2	MCF-7	breast:
3	chr5:179922992..179929395-chr5:179931202..179936163,8	K562	blood:
4	chr5:179933515..179935509-chr5:179936709..179938826,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11249715	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249724	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11738060	0.85[EUR][1000 genomes]
rs11740103	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11740121	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11740213	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11740953	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11741030	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11742350	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11742375	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11743486	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11744382	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11744428	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11744582	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11745477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11745688	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746130	0.81[EUR][1000 genomes]
rs11747624	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11748724	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748792	0.92[EUR][1000 genomes]
rs11750477	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11750835	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11949203	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11950075	0.82[ASN][1000 genomes]
rs11956078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957507	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960298	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12109328	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12110046	0.88[EUR][1000 genomes]
rs12719870	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13154631	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13156947	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13164771	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13166694	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13171439	0.81[EUR][1000 genomes]
rs13171609	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13171921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13174480	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13179742	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13181735	0.82[EUR][1000 genomes]
rs13182919	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13183429	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13187624	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17630549	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17698422	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2002074	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34281336	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34957777	0.81[ASN][1000 genomes]
rs35076338	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35490561	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35706747	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56005965	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56039468	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60034484	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62405495	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62405496	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62405525	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62405531	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62405532	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62405547	0.92[EUR][1000 genomes]
rs71613462	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs872365	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs872366	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
4	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
6	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv1023537	chr5:179791679-179982822	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv537985	chr5:179791679-179982822	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1019519	chr5:179866730-179959408	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv830564	chr5:179867394-180010096	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179923200-179936400	Weak transcription	Fetal Intestine Large	intestine
2	chr5:179923400-179946000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr5:179923600-179942000	Weak transcription	Spleen	Spleen
4	chr5:179923600-179949800	Weak transcription	Gastric	stomach
5	chr5:179923600-179949800	Weak transcription	Psoas Muscle	Psoas
6	chr5:179923600-179957000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:179923800-179935400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr5:179923800-179941200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:179924000-179935200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:179924000-179948000	Weak transcription	A549	lung
11	chr5:179924000-179949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:179924200-179949200	Weak transcription	Pancreas	Pancrea
13	chr5:179924200-179949600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:179924200-179950000	Weak transcription	Brain Angular Gyrus	brain
15	chr5:179924600-179941600	Weak transcription	Brain Germinal Matrix	brain
16	chr5:179924600-179944800	Weak transcription	Fetal Brain Male	brain
17	chr5:179924600-179944800	Weak transcription	Fetal Lung	lung
18	chr5:179924600-179949800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:179924600-179957000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:179925000-179936200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:179925600-179943800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:179925600-179945600	Weak transcription	Lung	lung
23	chr5:179925800-179935000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:179925800-179949200	Weak transcription	Left Ventricle	heart
25	chr5:179926000-179947600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:179926800-179948600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:179927000-179937000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr5:179927000-179946000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:179927000-179947800	Weak transcription	NHEK	skin
30	chr5:179927000-179948000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:179927000-179954400	Weak transcription	Hela-S3	cervix
32	chr5:179927400-179945800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:179927400-179948200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:179927400-179948200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:179927400-179949200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:179927400-179949200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:179927400-179949600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:179928000-179941600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:179928600-179945800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr5:179929000-179959200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr5:179929200-179945800	Weak transcription	Fetal Brain Female	brain
42	chr5:179931400-179946000	Weak transcription	Osteobl	bone
43	chr5:179931600-179935000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:179931600-179942200	Weak transcription	GM12878-XiMat	blood
45	chr5:179931800-179941400	Weak transcription	HepG2	liver
46	chr5:179932800-179935000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr5:179932800-179935000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr5:179932800-179935200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr5:179932800-179935400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr5:179933000-179935000	Enhancers	Primary T cells from cord blood	blood

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