Variant report

Variant	rs11187060
Chromosome Location	chr10:94304132-94304133
allele	C/T
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	POLR2A	chr10:94304006-94304313	SK-N-MC	brain:	n/a	n/a
2	REST	chr10:94304098-94304418	HL-60	blood:	n/a	n/a
3	TEAD4	chr10:94304033-94304474	K562	blood:	n/a	n/a
4	REST	chr10:94304097-94304371	PFSK-1	brain:	n/a	n/a
5	ZNF384	chr10:94304072-94304413	K562	blood:	n/a	n/a
6	SPI1	chr10:94304058-94304562	HL-60	blood:	n/a	chr10:94304281-94304294 chr10:94304284-94304293 chr10:94304281-94304294 chr10:94304285-94304292
7	IRF1	chr10:94304127-94304520	K562	blood:	n/a	chr10:94304472-94304483 chr10:94304473-94304483
8	REST	chr10:94303986-94304638	HL-60	blood:	n/a	n/a
9	EBF1	chr10:94304076-94304361	GM12878	blood:	n/a	n/a
10	MAX	chr10:94304110-94304483	NB4	blood:	n/a	n/a
11	SPI1	chr10:94304081-94304387	GM12891	blood:	n/a	chr10:94304281-94304294 chr10:94304284-94304293 chr10:94304281-94304294 chr10:94304285-94304292
12	ZNF384	chr10:94304065-94304434	GM12878	blood:	n/a	n/a
13	RUNX3	chr10:94304035-94304475	GM12878	blood:	n/a	n/a
14	ATF1	chr10:94304132-94304414	K562	blood:	n/a	n/a
15	SPI1	chr10:94303825-94304695	GM12878	blood:	n/a	chr10:94304281-94304294 chr10:94304284-94304293 chr10:94304281-94304294 chr10:94304285-94304292
16	MYC	chr10:94304096-94304435	NB4	blood:	n/a	n/a
17	IKZF1	chr10:94304083-94304391	GM12878	blood:	n/a	n/a
18	RUNX3	chr10:94304110-94304453	GM12878	blood:	n/a	n/a
19	SPI1	chr10:94303947-94304594	HL-60	blood:	n/a	chr10:94304281-94304294 chr10:94304284-94304293 chr10:94304281-94304294 chr10:94304285-94304292
20	SPI1	chr10:94304085-94304415	GM12878	blood:	n/a	chr10:94304281-94304294 chr10:94304284-94304293 chr10:94304281-94304294 chr10:94304285-94304292
21	SPI1	chr10:94304130-94304412	GM12891	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: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10882081	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10882082	0.85[ASN][1000 genomes]
rs11187046	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11187057	0.87[ASN][1000 genomes]
rs12412249	0.83[ASN][1000 genomes]
rs17107734	0.82[JPT][hapmap]
rs1832197	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1999763	0.81[JPT][hapmap]
rs1999764	0.81[JPT][hapmap]
rs2421945	0.88[ASW][hapmap];0.84[CEU][hapmap];0.90[GIH][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.85[TSI][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3758503	0.81[JPT][hapmap]
rs3758505	0.81[JPT][hapmap]
rs4304670	0.84[CEU][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6583833	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs7068618	0.81[JPT][hapmap]
rs7075851	0.81[JPT][hapmap]
rs7078243	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs7078413	0.87[ASW][hapmap];0.92[CHB][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7097800	0.80[JPT][hapmap]
rs7900584	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv895895	chr10:94304132-94372706	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr10:94277200-94313800	Weak transcription	Brain Angular Gyrus	brain
17	chr10:94277200-94331200	Weak transcription	Stomach Mucosa	stomach
18	chr10:94277400-94304200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr10:94277800-94332200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr10:94289600-94313200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr10:94290400-94318800	Weak transcription	Right Ventricle	heart
22	chr10:94290800-94313800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr10:94291400-94313800	Weak transcription	HSMM	muscle
24	chr10:94292800-94313800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr10:94294000-94313400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr10:94294400-94313800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr10:94294600-94307200	Weak transcription	A549	lung
28	chr10:94294600-94313800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr10:94294800-94313600	Weak transcription	NHDF-Ad	bronchial
30	chr10:94295000-94313400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:94295400-94318000	Weak transcription	NH-A	brain
32	chr10:94295600-94313400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr10:94295600-94313600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr10:94295600-94313800	Weak transcription	Thymus	Thymus
35	chr10:94295600-94313800	Weak transcription	Osteobl	bone
36	chr10:94295600-94318600	Weak transcription	Fetal Kidney	kidney
37	chr10:94295800-94307600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:94295800-94311400	Weak transcription	HepG2	liver
39	chr10:94295800-94313800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr10:94295800-94313800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr10:94295800-94313800	Weak transcription	Small Intestine	intestine
42	chr10:94296000-94304200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr10:94296000-94309400	Weak transcription	Fetal Intestine Small	intestine
44	chr10:94296000-94313200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr10:94296000-94313400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr10:94296000-94313400	Weak transcription	Fetal Muscle Leg	muscle
47	chr10:94296000-94313600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr10:94296000-94313600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr10:94296000-94313800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr10:94296000-94314000	Weak transcription	Fetal Intestine Large	intestine

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