Variant report

Variant	rs1569
Chromosome Location	chr2:67637196-67637197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2128770	1.00[AFR][1000 genomes]
rs4488644	1.00[AFR][1000 genomes]
rs6735581	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3335541	chr2:67577544-67773907	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67625200-67638200	Weak transcription	Left Ventricle	heart
2	chr2:67625400-67639400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:67625400-67639400	Weak transcription	Psoas Muscle	Psoas
4	chr2:67625400-67639800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:67625400-67640000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:67625400-67640200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:67625400-67640400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:67625400-67641200	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:67625400-67641400	Weak transcription	HSMMtube	muscle
10	chr2:67625400-67643000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:67625600-67638000	Weak transcription	Fetal Stomach	stomach
12	chr2:67625600-67638800	Weak transcription	Fetal Brain Female	brain
13	chr2:67625600-67639600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:67625600-67639600	Weak transcription	Right Ventricle	heart
15	chr2:67625600-67639800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:67625600-67641000	Weak transcription	Fetal Brain Male	brain
17	chr2:67626200-67639200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:67626400-67638800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:67626600-67638200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:67626600-67638800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:67626800-67637800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:67627000-67638800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:67627200-67638800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:67627600-67641200	Weak transcription	Primary T cells from cord blood	blood
25	chr2:67628000-67640000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:67628000-67641800	Weak transcription	Aorta	Aorta
27	chr2:67628200-67641200	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:67628200-67641400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:67628400-67642000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:67628800-67639400	Weak transcription	NHEK	skin
31	chr2:67629000-67638600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:67629000-67638800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:67629800-67638000	Strong transcription	HUVEC	blood vessel
34	chr2:67629800-67638800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:67629800-67638800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:67630000-67639200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:67631000-67640200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:67631000-67640600	Weak transcription	NHLF	lung
39	chr2:67631200-67637200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:67631600-67641200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:67631800-67637600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr2:67631800-67637800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr2:67632000-67640400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:67632200-67639600	Weak transcription	Brain Hippocampus Middle	brain
45	chr2:67632400-67637200	Weak transcription	Brain Anterior Caudate	brain
46	chr2:67632400-67637800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr2:67632400-67638000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr2:67632400-67640400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr2:67632600-67637800	Weak transcription	Fetal Kidney	kidney
50	chr2:67633200-67637400	Weak transcription	A549	lung

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