Variant report

Variant	rs4577979
Chromosome Location	chr8:1621129-1621130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11136419	0.81[ASN][1000 genomes]
rs17829167	0.91[ASN][1000 genomes]
rs2235113	0.89[AMR][1000 genomes]
rs2293908	0.92[ASN][1000 genomes]
rs3817673	0.89[AMR][1000 genomes]
rs60753815	0.83[ASN][1000 genomes]
rs73547746	0.89[ASN][1000 genomes]
rs73672916	0.91[ASN][1000 genomes]
rs73672918	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028487	chr8:674077-1642737	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv932163	chr8:977218-1628286	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1026673	chr8:1142469-1679673	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv889697	chr8:1238564-1861971	Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1031375	chr8:1320657-1722050	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv427811	chr8:1400816-1676653	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1034963	chr8:1544425-1681781	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1015597	chr8:1563559-1684995	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv539296	chr8:1563559-1684995	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
11	nsv889705	chr8:1581839-1676147	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv889706	chr8:1581839-1681171	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv889707	chr8:1581839-1920461	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
15	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
16	nsv889710	chr8:1591412-1676147	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv889711	chr8:1591412-1904157	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
18	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
19	nsv609524	chr8:1594307-1643287	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv889713	chr8:1594307-1659040	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv609525	chr8:1595450-1632525	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv609526	chr8:1595450-1640790	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1618800-1621200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr8:1618800-1621400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr8:1619000-1621400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr8:1620000-1621400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr8:1620000-1643800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:1620600-1621200	Flanking Active TSS	HepG2	liver
7	chr8:1620600-1621400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:1620600-1621600	Enhancers	Brain Hippocampus Middle	brain
9	chr8:1620800-1621200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:1620800-1621200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr8:1620800-1621200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:1620800-1621200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:1620800-1621200	Active TSS	Muscle Satellite Cultured Cells	--
14	chr8:1620800-1621200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:1620800-1621200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:1620800-1621200	Flanking Active TSS	Colonic Mucosa	Colon
17	chr8:1620800-1621200	Flanking Active TSS	Pancreas	Pancrea
18	chr8:1620800-1621200	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr8:1620800-1621200	Enhancers	Right Atrium	heart
20	chr8:1620800-1621200	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr8:1620800-1621200	Active TSS	HSMM	muscle
22	chr8:1620800-1621200	Active TSS	NHEK	skin
23	chr8:1620800-1621200	Active TSS	Osteobl	bone
24	chr8:1620800-1621400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr8:1620800-1621400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:1620800-1621400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr8:1620800-1621400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:1620800-1621400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:1620800-1621400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:1620800-1621400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr8:1620800-1621400	Enhancers	Brain Angular Gyrus	brain
32	chr8:1620800-1621400	Active TSS	Brain Cingulate Gyrus	brain
33	chr8:1620800-1621400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr8:1620800-1621400	Enhancers	Fetal Muscle Leg	muscle
35	chr8:1620800-1621400	Active TSS	Rectal Smooth Muscle	rectum
36	chr8:1620800-1621400	Active TSS	Stomach Smooth Muscle	stomach
37	chr8:1620800-1621400	Enhancers	Spleen	Spleen
38	chr8:1621000-1621200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:1621000-1621200	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr8:1621000-1621200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:1621000-1621200	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr8:1621000-1621200	Active TSS	Brain Anterior Caudate	brain
43	chr8:1621000-1621200	Enhancers	Brain Germinal Matrix	brain
44	chr8:1621000-1621200	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr8:1621000-1621200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr8:1621000-1621200	Enhancers	Fetal Brain Female	brain
47	chr8:1621000-1621200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
48	chr8:1621000-1621200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr8:1621000-1621200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr8:1621000-1621400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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