Variant report

Variant	rs12218329
Chromosome Location	chr10:94303976-94303977
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr10:94303825-94304695	GM12878	blood:	n/a	chr10:94304281-94304294 chr10:94304284-94304293 chr10:94304281-94304294 chr10:94304285-94304292
2	SPI1	chr10:94303947-94304594	HL-60	blood:	n/a	chr10:94304281-94304294 chr10:94304284-94304293 chr10:94304281-94304294 chr10:94304285-94304292

No.	Distal block	Cell Line	Cell type
1	chr10:94302104..94304153-chr10:94332347..94334327,2	K562	blood:
2	chr10:94300885..94308768-chr10:94330971..94336052,7	K562	blood:
3	chr10:94301008..94306280-chr10:94330329..94333980,6	MCF-7	breast:
4	chr10:94302530..94304452-chr10:94331957..94333694,2	MCF-7	breast:
5	chr10:94302688..94305246-chr10:94317685..94320149,2	MCF-7	breast:
6	chr10:94303916..94306859-chr10:94326887..94328763,2	K562	blood:

Variant related genes	Relation type
IDE	TF binding region
ENSG00000119912	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10882066	0.92[ASN][1000 genomes]
rs10882069	0.90[ASN][1000 genomes]
rs10882070	0.86[ASN][1000 genomes]
rs10882078	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882086	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10882088	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10882093	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11186999	0.92[ASN][1000 genomes]
rs11187013	0.91[ASN][1000 genomes]
rs11187018	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11187034	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11187037	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11187077	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11187079	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11187092	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11187108	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11187115	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11595187	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12218324	0.87[ASN][1000 genomes]
rs12411517	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12411873	0.87[ASN][1000 genomes]
rs12414433	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12415807	0.92[ASN][1000 genomes]
rs12416180	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107734	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1999763	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1999764	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2275219	0.87[ASN][1000 genomes]
rs2297743	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2421940	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35118791	0.87[ASN][1000 genomes]
rs3758503	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3758505	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4646954	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4646958	0.87[ASN][1000 genomes]
rs4933232	0.92[ASN][1000 genomes]
rs4933728	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4933731	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4933732	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57936176	0.87[ASN][1000 genomes]
rs59415214	0.83[ASN][1000 genomes]
rs6583820	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7068118	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7068618	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7075073	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7075851	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7079099	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7087153	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7089987	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7093437	0.92[ASN][1000 genomes]
rs74151674	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7895832	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7898114	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7898862	0.92[ASN][1000 genomes]
rs7900584	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7916460	0.87[ASN][1000 genomes]
rs7916594	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	esv1792868	chr10:94232247-94409749	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94250200-94313800	Weak transcription	Brain Substantia Nigra	brain
2	chr10:94250400-94307400	Weak transcription	Spleen	Spleen
3	chr10:94262000-94307400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:94267600-94314000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:94267800-94328800	Weak transcription	Fetal Heart	heart
6	chr10:94268000-94313800	Weak transcription	Colon Smooth Muscle	Colon
7	chr10:94268000-94313800	Weak transcription	NHLF	lung
8	chr10:94269400-94314000	Weak transcription	Aorta	Aorta
9	chr10:94269600-94314000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:94272000-94317200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr10:94272200-94313800	Weak transcription	HSMMtube	muscle
12	chr10:94272200-94332000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr10:94272200-94332200	Weak transcription	Gastric	stomach
14	chr10:94272400-94313600	Weak transcription	Brain Hippocampus Middle	brain
15	chr10:94272800-94313200	Weak transcription	Fetal Brain Female	brain
16	chr10:94276800-94304000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr10:94277000-94304000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr10:94277200-94304000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr10:94277200-94313800	Weak transcription	Brain Angular Gyrus	brain
20	chr10:94277200-94331200	Weak transcription	Stomach Mucosa	stomach
21	chr10:94277400-94304200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr10:94277800-94332200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr10:94289600-94313200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr10:94290400-94318800	Weak transcription	Right Ventricle	heart
25	chr10:94290800-94313800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr10:94291400-94313800	Weak transcription	HSMM	muscle
27	chr10:94292800-94313800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:94294000-94313400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr10:94294400-94313800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr10:94294600-94307200	Weak transcription	A549	lung
31	chr10:94294600-94313800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr10:94294800-94313600	Weak transcription	NHDF-Ad	bronchial
33	chr10:94295000-94313400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:94295400-94318000	Weak transcription	NH-A	brain
35	chr10:94295600-94304000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr10:94295600-94313400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr10:94295600-94313600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr10:94295600-94313800	Weak transcription	Thymus	Thymus
39	chr10:94295600-94313800	Weak transcription	Osteobl	bone
40	chr10:94295600-94318600	Weak transcription	Fetal Kidney	kidney
41	chr10:94295800-94307600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr10:94295800-94311400	Weak transcription	HepG2	liver
43	chr10:94295800-94313800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr10:94295800-94313800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr10:94295800-94313800	Weak transcription	Small Intestine	intestine
46	chr10:94296000-94304000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr10:94296000-94304200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr10:94296000-94309400	Weak transcription	Fetal Intestine Small	intestine
49	chr10:94296000-94313200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr10:94296000-94313400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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