Variant report

Variant	rs4613328
Chromosome Location	chr2:96631964-96631965
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4144055	0.86[AFR][1000 genomes]
rs6740563	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3416818	chr2:96072529-96680708	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv874660	chr2:96091132-96669134	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv516044	chr2:96150959-96683378	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1003371	chr2:96326106-96684876	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv874666	chr2:96370571-96691125	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv961832	chr2:96453677-96671971	Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv834304	chr2:96493545-96667472	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1004486	chr2:96544604-96684876	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv874669	chr2:96547820-96691125	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv818073	chr2:96554851-96683378	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv1840487	chr2:96582807-96836512	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
12	esv14492	chr2:96591462-96647854	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv1800369	chr2:96610923-96640222	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv870250	chr2:96610946-96739308	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	esv3449175	chr2:96611725-96634123	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv1838669	chr2:96613136-96674509	Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	esv1839005	chr2:96613136-96674509	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	esv1836246	chr2:96622689-96674509	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	esv1837811	chr2:96622689-96730375	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	esv1823999	chr2:96623968-96637870	Strong transcription Weak transcription Enhancers ZNF genes & repeats	lncRNA	1 gene(s)	inside rSNPs	diseases
21	esv3350179	chr2:96629425-96634323	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4613328	ADRA2B	cis	Thyroid	GTEx
rs4613328	FAHD2CP	cis	lung	GTEx
rs4613328	CIAO1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96556200-96645000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr2:96556400-96645000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:96557400-96656800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:96577800-96647800	Weak transcription	NHDF-Ad	bronchial
5	chr2:96577800-96651000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:96577800-96656600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:96578000-96645000	Weak transcription	NH-A	brain
8	chr2:96582800-96656400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:96585200-96649000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:96586000-96657200	Weak transcription	Ovary	ovary
11	chr2:96587800-96656600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:96588200-96649000	Weak transcription	Fetal Intestine Large	intestine
13	chr2:96589000-96645400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:96593600-96645000	Weak transcription	Adipose Nuclei	Adipose
15	chr2:96600600-96657200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:96600800-96645000	Weak transcription	Primary T cells from cord blood	blood
17	chr2:96605400-96644800	Weak transcription	Brain Anterior Caudate	brain
18	chr2:96605600-96655000	Weak transcription	HUVEC	blood vessel
19	chr2:96606000-96635000	Weak transcription	Fetal Intestine Small	intestine
20	chr2:96606400-96657200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:96607400-96644600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:96607400-96657200	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:96608400-96635000	Weak transcription	Thymus	Thymus
24	chr2:96610600-96645000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:96611000-96656600	Weak transcription	Osteobl	bone
26	chr2:96611400-96657200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:96614400-96655800	Weak transcription	K562	blood
28	chr2:96615200-96650000	Weak transcription	Brain Substantia Nigra	brain
29	chr2:96616400-96643200	Weak transcription	Fetal Lung	lung
30	chr2:96616600-96645400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:96616800-96657200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:96617000-96656600	Weak transcription	Fetal Stomach	stomach
33	chr2:96617000-96656800	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:96617200-96656800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:96617800-96645000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr2:96617800-96656600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:96618200-96648000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr2:96620600-96645400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:96621400-96645200	Weak transcription	Liver	Liver
40	chr2:96621600-96638800	Weak transcription	Small Intestine	intestine
41	chr2:96621800-96657200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:96622000-96635600	Weak transcription	Brain Angular Gyrus	brain
43	chr2:96622600-96645000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:96623000-96648800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:96623400-96639800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:96624000-96658200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:96624200-96635000	Weak transcription	Aorta	Aorta
48	chr2:96624400-96645200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr2:96624400-96656600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:96625200-96644200	Weak transcription	Fetal Thymus	thymus

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