Variant report

Variant	rs17314977
Chromosome Location	chr3:99785730-99785731
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:99535064..99536649-chr3:99785344..99788184,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs16842034	1.00[EUR][1000 genomes]
rs17313676	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17314245	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17314280	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17338576	1.00[EUR][1000 genomes]
rs17392822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17393080	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17397949	1.00[EUR][1000 genomes]
rs17779605	1.00[EUR][1000 genomes]
rs2035400	1.00[EUR][1000 genomes]
rs36005744	1.00[EUR][1000 genomes]
rs41272629	1.00[EUR][1000 genomes]
rs41272631	1.00[EUR][1000 genomes]
rs41272633	1.00[EUR][1000 genomes]
rs62636640	1.00[EUR][1000 genomes]
rs62636641	1.00[EUR][1000 genomes]
rs6762809	1.00[EUR][1000 genomes]
rs6762871	1.00[EUR][1000 genomes]
rs6768684	1.00[EUR][1000 genomes]
rs6781780	1.00[EUR][1000 genomes]
rs6784150	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6788807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6790187	1.00[EUR][1000 genomes]
rs6794130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6794365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6807137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6807615	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72936590	0.83[EUR][1000 genomes]
rs7611313	1.00[EUR][1000 genomes]
rs7619738	1.00[EUR][1000 genomes]
rs7626310	1.00[EUR][1000 genomes]
rs7628458	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7646221	1.00[EUR][1000 genomes]
rs7648943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7652596	1.00[EUR][1000 genomes]
rs766777	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription 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	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv869848	chr3:99652246-99904276	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv932634	chr3:99660690-99888854	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1010579	chr3:99660754-99901817	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1008483	chr3:99660754-99903769	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1010897	chr3:99660754-99904783	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1001529	chr3:99661758-99892654	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
9	nsv536665	chr3:99661758-99892654	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	nsv591148	chr3:99774720-99905803	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv3462214	chr3:99785228-99785761	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3485912	chr3:99785261-99785745	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3380826	chr3:99785262-99785790	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv4340	chr3:99785289-99785823	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3462215	chr3:99785290-99785787	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3485910	chr3:99785306-99785740	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99713600-99787800	Weak transcription	Primary T cells from cord blood	blood
2	chr3:99767600-99801000	Weak transcription	HSMM	muscle
3	chr3:99768400-99788000	Weak transcription	Primary B cells from cord blood	blood
4	chr3:99770800-99787600	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:99774000-99794800	Weak transcription	Stomach Mucosa	stomach
6	chr3:99775000-99785800	Weak transcription	Fetal Intestine Small	intestine
7	chr3:99777400-99787800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:99778600-99787800	Weak transcription	Right Atrium	heart
9	chr3:99780600-99786000	Weak transcription	Fetal Intestine Large	intestine
10	chr3:99783000-99785800	Weak transcription	Small Intestine	intestine
11	chr3:99783000-99787600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:99783200-99786600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr3:99783200-99787800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:99783200-99792400	Weak transcription	Psoas Muscle	Psoas
15	chr3:99783200-99793600	Weak transcription	Aorta	Aorta
16	chr3:99783400-99785800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:99783400-99791400	Enhancers	HepG2	liver
18	chr3:99783600-99787800	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:99783600-99787800	Weak transcription	Ovary	ovary
20	chr3:99783600-99787800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:99783600-99787800	Weak transcription	NHDF-Ad	bronchial
22	chr3:99783600-99787800	Weak transcription	Osteobl	bone
23	chr3:99783600-99788200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:99783600-99788600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:99783600-99791200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:99783600-99792200	Weak transcription	Fetal Lung	lung
27	chr3:99784200-99787800	Weak transcription	NHLF	lung
28	chr3:99784200-99791400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:99784200-99792400	Weak transcription	Fetal Stomach	stomach
30	chr3:99784400-99786600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr3:99784400-99789400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:99785600-99786200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:99785600-99786400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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