Variant report

Variant	rs2653607
Chromosome Location	chr11:8863125-8863126
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	SRF	chr11:8863052-8863172	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8854948..8856517-chr11:8861568..8863315,2	MCF-7	breast:
2	chr11:8850578..8853466-chr11:8861792..8863459,2	K562	blood:

Variant related genes	Relation type
RNA5SP330	TF binding region
ST5	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10743093	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10769966	0.82[AFR][1000 genomes]
rs10769967	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10769968	0.83[EUR][1000 genomes]
rs10769970	0.82[EUR][1000 genomes]
rs10769971	0.82[EUR][1000 genomes]
rs10769973	0.82[EUR][1000 genomes]
rs10840130	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10840134	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10840136	0.84[ASN][1000 genomes]
rs10840141	0.82[EUR][1000 genomes]
rs10840142	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10840147	0.82[EUR][1000 genomes]
rs10840148	0.82[EUR][1000 genomes]
rs11042078	0.95[EUR][1000 genomes]
rs11042079	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11042082	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11042088	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11042102	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11042103	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11603841	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12794444	0.90[EUR][1000 genomes]
rs1529641	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1569408	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1883098	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1988708	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1988709	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2568043	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2568054	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2568059	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2568061	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2568062	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2568064	0.83[AFR][1000 genomes]
rs2568065	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2568090	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2653567	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2653593	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2653606	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2653613	0.86[ASN][1000 genomes]
rs2653616	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2742536	0.82[ASN][1000 genomes]
rs2742537	0.82[ASN][1000 genomes]
rs2742540	0.83[ASN][1000 genomes]
rs2742545	0.84[ASN][1000 genomes]
rs2742550	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2742552	0.86[ASN][1000 genomes]
rs34842234	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4554887	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4910062	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4910119	0.81[EUR][1000 genomes]
rs61876187	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7119939	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7123429	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7123861	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7937298	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7943377	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7947631	0.81[AFR][1000 genomes]
rs978636	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong 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 target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2653607	TMEM9B-AS1	cis	Muscle Skeletal	GTEx
rs2653607	TMEM9B-AS1	cis	lung	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8859400-8864000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:8859800-8863200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr11:8859800-8863800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr11:8860000-8863200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:8860200-8863400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:8860600-8863600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr11:8860600-8864400	Weak transcription	Osteobl	bone
8	chr11:8861000-8863200	Enhancers	Fetal Muscle Trunk	muscle
9	chr11:8861600-8863200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:8862000-8863600	Enhancers	HepG2	liver
11	chr11:8862000-8864600	Weak transcription	NHDF-Ad	bronchial
12	chr11:8862200-8863400	Weak transcription	Fetal Intestine Small	intestine
13	chr11:8862200-8881200	Weak transcription	Hela-S3	cervix
14	chr11:8862400-8864800	Weak transcription	Fetal Stomach	stomach
15	chr11:8862400-8865000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:8862400-8865000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:8862400-8865000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:8862400-8865200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:8862400-8865200	Weak transcription	Pancreas	Pancrea
20	chr11:8862400-8867000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:8862400-8867800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:8862400-8867800	Weak transcription	Ovary	ovary
23	chr11:8862400-8868000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:8862400-8868000	Weak transcription	Left Ventricle	heart
25	chr11:8862400-8870600	Weak transcription	Placenta	Placenta
26	chr11:8862400-8874600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:8862400-8880000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:8862400-8880000	Weak transcription	Spleen	Spleen
29	chr11:8862400-8885000	Weak transcription	NHLF	lung
30	chr11:8862400-8888400	Weak transcription	Right Atrium	heart
31	chr11:8862600-8863400	Weak transcription	HUVEC	blood vessel
32	chr11:8862600-8864000	Weak transcription	Fetal Lung	lung
33	chr11:8862600-8864400	Weak transcription	A549	lung
34	chr11:8862600-8865200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:8862600-8866400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:8862600-8867000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:8862600-8867800	Weak transcription	Brain Substantia Nigra	brain
38	chr11:8862600-8868400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:8862600-8868800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr11:8862600-8876600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:8862600-8885200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr11:8862800-8863200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:8862800-8865400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:8863000-8863400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:8863000-8863400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:8863000-8863400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr11:8863000-8863600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr11:8863000-8866400	Weak transcription	Fetal Muscle Leg	muscle

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