Variant report

Variant	rs7433930
Chromosome Location	chr3:75830581-75830582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10446409	0.88[ASN][1000 genomes]
rs11711218	0.84[ASN][1000 genomes]
rs11714955	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13069699	0.84[AFR][1000 genomes]
rs13079494	0.86[AFR][1000 genomes]
rs35384169	0.82[AFR][1000 genomes]
rs35956540	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3885751	0.81[ASN][1000 genomes]
rs4974327	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4974328	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4974333	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4974345	0.81[ASN][1000 genomes]
rs6419799	0.89[ASN][1000 genomes]
rs71315314	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997253	chr3:75168497-76021627	Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
2	esv2422315	chr3:75250088-75853296	Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
3	nsv428086	chr3:75346159-75914792	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	nsv529016	chr3:75361506-75836858	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
5	esv2756999	chr3:75392078-76003036	Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
6	nsv1005724	chr3:75396818-75881261	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
7	nsv1014162	chr3:75439781-75892941	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
8	esv1808663	chr3:75466176-75902476	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
9	nsv590701	chr3:75481114-75912373	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
10	nsv999953	chr3:75507382-75881261	Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
11	nsv999731	chr3:75507382-75894520	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
12	esv2754992	chr3:75545172-75913502	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
13	nsv590711	chr3:75568433-75918869	Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
14	nsv876983	chr3:75572199-76024339	Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
15	nsv428418	chr3:75615943-75973574	Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
16	esv2757875	chr3:75617595-76077290	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
17	esv2754135	chr3:75713010-76016610	Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
18	esv1800286	chr3:75714484-75879921	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
19	nsv876988	chr3:75720611-75923055	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
20	esv1818689	chr3:75726925-75913502	ZNF genes & repeats Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
21	esv1799243	chr3:75749587-75919847	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
22	nsv822140	chr3:75765583-75875410	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
23	esv1824751	chr3:75770912-75914311	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
24	nsv471427	chr3:75786029-75834255	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
25	esv1818962	chr3:75793105-75887660	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	esv1815438	chr3:75793105-75913097	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	esv1818295	chr3:75793305-75918025	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv876989	chr3:75800666-76029306	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
29	nsv876990	chr3:75800666-76051624	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
30	nsv876991	chr3:75800666-76059499	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
31	nsv967113	chr3:75817123-75834878	Flanking Active TSS Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7433930	ZNF717	cis	Adipose Subcutaneous	GTEx
rs7433930	ZNF717	cis	Artery Tibial	GTEx
rs7433930	LINC00960	cis	Skin Sun Exposed Lower leg	GTEx
rs7433930	ZNF717	cis	Thyroid	GTEx
rs7433930	LINC00960	cis	Artery Tibial	GTEx
rs7433930	LINC00960	cis	lung	GTEx
rs7433930	LINC00960	cis	Esophagus Mucosa	GTEx
rs7433930	LINC00960	cis	Thyroid	GTEx

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75796800-75832800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:75818400-75833800	Weak transcription	Right Ventricle	heart
3	chr3:75820000-75833800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr3:75820400-75831600	Weak transcription	HSMMtube	muscle
5	chr3:75821600-75831600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:75821800-75833600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr3:75822000-75833600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:75822200-75831600	Weak transcription	NHLF	lung
9	chr3:75824000-75830600	ZNF genes & repeats	Liver	Liver
10	chr3:75824200-75831600	Weak transcription	Osteobl	bone
11	chr3:75824400-75831600	Weak transcription	Colonic Mucosa	Colon
12	chr3:75824400-75833600	Weak transcription	NHDF-Ad	bronchial
13	chr3:75825000-75831600	Weak transcription	Fetal Heart	heart
14	chr3:75825400-75830800	Strong transcription	Ovary	ovary
15	chr3:75825600-75832400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr3:75825600-75832400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr3:75825800-75831600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:75825800-75832200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
19	chr3:75825800-75832800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:75826000-75831600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:75826000-75832400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr3:75826000-75832400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr3:75826200-75830600	ZNF genes & repeats	Fetal Lung	lung
24	chr3:75826400-75831600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr3:75826800-75831800	Strong transcription	Brain Angular Gyrus	brain
26	chr3:75827000-75831400	Weak transcription	HSMM	muscle
27	chr3:75827000-75832200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:75827200-75830600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
29	chr3:75827200-75832200	ZNF genes & repeats	Fetal Brain Female	brain
30	chr3:75827200-75832800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:75827400-75831600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr3:75827600-75831800	Strong transcription	Fetal Stomach	stomach
33	chr3:75827600-75833400	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:75828000-75830600	Strong transcription	Brain Substantia Nigra	brain
35	chr3:75828000-75831600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr3:75828000-75832400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
37	chr3:75828000-75832400	Strong transcription	Brain Anterior Caudate	brain
38	chr3:75828000-75833600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr3:75828000-75833600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr3:75828400-75831400	Weak transcription	Fetal Brain Male	brain
41	chr3:75828400-75831600	Strong transcription	Pancreas	Pancrea
42	chr3:75828400-75831800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:75828600-75831200	Weak transcription	Fetal Thymus	thymus
44	chr3:75828800-75831600	Weak transcription	Aorta	Aorta
45	chr3:75828800-75831600	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr3:75828800-75832200	Strong transcription	Fetal Intestine Large	intestine
47	chr3:75828800-75832200	Strong transcription	Stomach Smooth Muscle	stomach
48	chr3:75828800-75832400	ZNF genes & repeats	Fetal Intestine Small	intestine
49	chr3:75829000-75830600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:75829000-75830800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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