Variant report

Variant	rs3112516
Chromosome Location	chr17:16231549-16231550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16230260..16232698-chr17:16238773..16240667,2	K562	blood:
2	chr17:16228167..16229725-chr17:16230867..16233220,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12949617	0.90[AMR][1000 genomes]
rs12950089	0.81[AMR][1000 genomes]
rs3095169	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3112515	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv907717	chr17:16076898-16239832	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
6	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 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	chr17:16201000-16232400	Weak transcription	Hela-S3	cervix
2	chr17:16201600-16246400	Weak transcription	Fetal Brain Male	brain
3	chr17:16205800-16245600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr17:16206000-16232200	Weak transcription	HMEC	breast
5	chr17:16206000-16245800	Weak transcription	Brain Anterior Caudate	brain
6	chr17:16206000-16246000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr17:16207400-16232400	Weak transcription	Right Atrium	heart
8	chr17:16209000-16245600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr17:16214600-16233000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr17:16214600-16255200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr17:16216800-16232400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr17:16217000-16232400	Weak transcription	Gastric	stomach
13	chr17:16217000-16246000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr17:16217200-16255200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr17:16217400-16232400	Weak transcription	A549	lung
16	chr17:16217600-16232600	Weak transcription	Small Intestine	intestine
17	chr17:16218000-16231800	Strong transcription	Fetal Intestine Small	intestine
18	chr17:16218000-16232000	Strong transcription	Fetal Stomach	stomach
19	chr17:16218000-16232400	Weak transcription	NHLF	lung
20	chr17:16219200-16246000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr17:16220800-16232400	Weak transcription	Stomach Mucosa	stomach
22	chr17:16221200-16232800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr17:16221400-16232400	Weak transcription	NHEK	skin
24	chr17:16222800-16245600	Weak transcription	Right Ventricle	heart
25	chr17:16224600-16232400	Weak transcription	HUVEC	blood vessel
26	chr17:16225800-16245800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr17:16226600-16232400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr17:16226600-16232400	Weak transcription	NHDF-Ad	bronchial
29	chr17:16226600-16245600	Weak transcription	Fetal Kidney	kidney
30	chr17:16227400-16232600	Weak transcription	Fetal Heart	heart
31	chr17:16227600-16232400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr17:16228400-16232400	Weak transcription	Psoas Muscle	Psoas
33	chr17:16229400-16255600	Weak transcription	Esophagus	oesophagus
34	chr17:16230200-16232400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr17:16230200-16232800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr17:16230200-16246000	Weak transcription	Spleen	Spleen
37	chr17:16230400-16232400	Weak transcription	Fetal Lung	lung
38	chr17:16230400-16232800	Weak transcription	Aorta	Aorta
39	chr17:16230400-16233800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr17:16230400-16245600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr17:16230400-16245600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr17:16230400-16245600	Weak transcription	Brain Germinal Matrix	brain
43	chr17:16230400-16245600	Weak transcription	Placenta	Placenta
44	chr17:16230400-16246000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr17:16230400-16246200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr17:16230400-16253600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr17:16230400-16255000	Weak transcription	Primary B cells from cord blood	blood
48	chr17:16230400-16255200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr17:16230400-16255200	Weak transcription	Brain Substantia Nigra	brain
50	chr17:16230600-16232400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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