Variant report

Variant	rs1747516
Chromosome Location	chr6:35053262-35053263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35050342..35053093-chr6:35053123..35054813,2	K562	blood:
2	chr6:35052520..35054027-chr6:35226819..35228676,2	K562	blood:
3	chr6:35045958..35049879-chr6:35052642..35055370,3	K562	blood:

Variant related genes	Relation type
ENSG00000065029	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1093986	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11552398	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13196771	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13203612	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13206654	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13207848	0.88[EUR][1000 genomes]
rs13208078	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13214114	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13216424	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13219307	0.83[ASN][1000 genomes]
rs16871749	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16871809	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16871814	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896559	0.86[ASN][1000 genomes]
rs1747517	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17610836	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17611877	0.97[ASN][1000 genomes]
rs2177382	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2234044	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395608	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2494098	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2762336	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2820225	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34069418	0.89[ASN][1000 genomes]
rs34103100	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34208177	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34250961	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34715060	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34930033	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35095464	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35693439	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3756856	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41270050	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4628094	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57111149	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66579470	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66753029	0.82[EUR][1000 genomes]
rs67167177	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67638810	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67941146	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6899618	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6906666	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913286	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913975	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926532	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936337	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6942104	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs728238	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896254	0.89[ASN][1000 genomes]
rs72897804	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901705	0.98[ASN][1000 genomes]
rs7766770	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7767073	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs820061	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs820062	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs820063	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs820065	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs820066	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs820067	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs820069	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs820072	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs820077	0.82[AMR][1000 genomes]
rs820083	0.86[ASN][1000 genomes]
rs820095	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs820099	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs820100	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs820101	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs820103	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs843937	0.86[ASN][1000 genomes]
rs9462053	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9462054	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9469950	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv869750	chr6:35031548-35085585	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35016200-35055000	Weak transcription	Hela-S3	cervix
2	chr6:35018800-35060600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr6:35020000-35059800	Strong transcription	Fetal Intestine Small	intestine
4	chr6:35020400-35059400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:35021800-35055400	Weak transcription	HSMM	muscle
6	chr6:35024800-35062000	Weak transcription	A549	lung
7	chr6:35025600-35056000	Strong transcription	Liver	Liver
8	chr6:35026600-35059200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:35028600-35060000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:35036200-35059200	Strong transcription	Primary T cells from cord blood	blood
11	chr6:35036800-35056200	Strong transcription	Fetal Stomach	stomach
12	chr6:35037000-35061800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:35039400-35060600	Strong transcription	Fetal Intestine Large	intestine
14	chr6:35040000-35057000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:35041800-35056800	Weak transcription	Fetal Heart	heart
16	chr6:35042200-35059200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:35044400-35058800	Strong transcription	Duodenum Mucosa	Duodenum
18	chr6:35044600-35057600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr6:35044600-35058200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:35044800-35055600	Strong transcription	Aorta	Aorta
21	chr6:35044800-35056800	Strong transcription	Rectal Smooth Muscle	rectum
22	chr6:35044800-35057800	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr6:35044800-35058800	Strong transcription	Gastric	stomach
24	chr6:35044800-35059000	Strong transcription	Left Ventricle	heart
25	chr6:35045000-35057000	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr6:35045000-35057000	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:35045000-35057800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr6:35045000-35059000	Strong transcription	Pancreas	Pancrea
29	chr6:35045200-35057000	Strong transcription	Fetal Brain Female	brain
30	chr6:35045200-35057400	Strong transcription	Ovary	ovary
31	chr6:35045200-35057800	Strong transcription	Brain Germinal Matrix	brain
32	chr6:35045200-35059400	Strong transcription	Thymus	Thymus
33	chr6:35045400-35056800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr6:35045600-35057200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr6:35046200-35055600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:35046400-35057800	Strong transcription	Fetal Lung	lung
37	chr6:35048600-35053800	Genic enhancers	Fetal Muscle Trunk	muscle
38	chr6:35049200-35056800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:35049600-35058800	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr6:35049600-35060200	Weak transcription	Psoas Muscle	Psoas
41	chr6:35049800-35055400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr6:35049800-35056600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:35050000-35054200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:35050000-35055800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr6:35050000-35056800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:35050000-35057200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:35050000-35059800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr6:35050000-35063800	Weak transcription	HUVEC	blood vessel
49	chr6:35050200-35053600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:35050200-35053800	Strong transcription	Primary hematopoietic stem cells	blood

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