Variant report

Variant	rs2513876
Chromosome Location	chr8:103872521-103872522
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
2	chr8:103871682..103873359-chr8:104047090..104048964,2	K562	blood:
3	chr8:103842048..103844243-chr8:103871500..103874316,2	K562	blood:
4	chr8:103870045..103872985-chr8:104031865..104034556,2	MCF-7	breast:
5	chr8:103871573..103873422-chr8:103904403..103907329,2	K562	blood:
6	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000254236	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1019976	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1062048	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17776569	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17776600	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1802539	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1806300	0.91[ASN][1000 genomes]
rs1897787	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1982111	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1991928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247355	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2436849	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2436850	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2436851	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2436854	0.91[EUR][1000 genomes]
rs2436856	0.97[ASN][1000 genomes]
rs2436861	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2513875	0.85[AFR][1000 genomes]
rs2513911	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2513912	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2513915	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2513917	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2513920	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2513923	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2513936	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2570941	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2570945	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2570951	0.97[ASN][1000 genomes]
rs2570952	0.95[ASN][1000 genomes]
rs2679736	0.97[ASN][1000 genomes]
rs2679737	0.97[ASN][1000 genomes]
rs2679740	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2679745	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2679747	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2679750	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2679753	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2916559	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3018943	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3018954	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34157576	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs34352733	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35656046	0.91[ASN][1000 genomes]
rs581610	0.87[ASN][1000 genomes]
rs601088	0.91[ASN][1000 genomes]
rs688791	0.87[ASN][1000 genomes]
rs974758	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103835200-103874200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:103836200-103873000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:103856000-103872800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:103856000-103874200	Weak transcription	Brain Substantia Nigra	brain
5	chr8:103856200-103873800	Weak transcription	Fetal Brain Male	brain
6	chr8:103862400-103874800	Weak transcription	Aorta	Aorta
7	chr8:103862400-103874800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:103865600-103873000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:103865800-103874600	Weak transcription	Colonic Mucosa	Colon
10	chr8:103866200-103874200	Weak transcription	HSMMtube	muscle
11	chr8:103866400-103874200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:103866400-103874200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:103866600-103872800	Weak transcription	Fetal Brain Female	brain
14	chr8:103866600-103873600	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:103866600-103874200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:103866600-103874200	Weak transcription	Right Ventricle	heart
17	chr8:103866600-103874400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:103866800-103873400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:103866800-103874200	Weak transcription	Spleen	Spleen
20	chr8:103866800-103874800	Weak transcription	Lung	lung
21	chr8:103867600-103874200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr8:103867600-103874200	Weak transcription	Fetal Intestine Small	intestine
23	chr8:103867600-103874400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:103867600-103874400	Weak transcription	Fetal Stomach	stomach
25	chr8:103867800-103873200	Genic enhancers	A549	lung
26	chr8:103868000-103873400	Weak transcription	Thymus	Thymus
27	chr8:103869000-103873000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr8:103869200-103873400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:103869200-103874200	Weak transcription	Fetal Lung	lung
30	chr8:103869400-103874400	Weak transcription	Fetal Intestine Large	intestine
31	chr8:103869400-103874400	Weak transcription	Fetal Kidney	kidney
32	chr8:103870200-103873600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:103870200-103874200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:103870200-103874400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:103870200-103874400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr8:103870400-103872800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:103870400-103873000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr8:103870400-103873600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:103870400-103874200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr8:103870400-103874400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:103870400-103874600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr8:103870600-103872800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr8:103870800-103874200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr8:103871000-103872600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:103871000-103872600	Enhancers	Osteobl	bone
46	chr8:103871000-103872800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
47	chr8:103871000-103872800	Enhancers	Hela-S3	cervix
48	chr8:103871000-103873200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr8:103871000-103873600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:103871000-103874400	Enhancers	Skeletal Muscle Female	skeletal muscle

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