Variant report

Variant	rs12575328
Chromosome Location	chr11:9314298-9314299
allele	A/G
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	chr11:9313564-9314609	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:9313506-9314797	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9278298..9280527-chr11:9313092..9315469,2	K562	blood:

Variant related genes	Relation type
TMEM41B	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10770012	0.81[ASN][1000 genomes]
rs10770015	0.93[ASN][1000 genomes]
rs12793955	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34702749	0.87[ASN][1000 genomes]
rs35378309	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4282978	0.90[ASN][1000 genomes]
rs4300394	0.87[ASN][1000 genomes]
rs4396289	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4420270	0.85[ASN][1000 genomes]
rs56349194	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114748	1.00[ASN][1000 genomes]
rs72850517	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
6	nsv515891	chr11:9275898-9334961	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv7669	chr11:9290376-9335028	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv32901	chr11:9311131-9328869	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv508617	chr11:9314027-9408562	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9287400-9319600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:9287400-9332600	Weak transcription	HMEC	breast
3	chr11:9287400-9333000	Weak transcription	Gastric	stomach
4	chr11:9287600-9319200	Weak transcription	NHLF	lung
5	chr11:9287800-9328400	Weak transcription	A549	lung
6	chr11:9287800-9333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:9288000-9320400	Weak transcription	Fetal Kidney	kidney
8	chr11:9288200-9321200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:9288600-9323200	Weak transcription	Pancreas	Pancrea
10	chr11:9289600-9314400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:9290000-9318000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:9291600-9322600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:9296600-9320000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:9296600-9332600	Weak transcription	Right Ventricle	heart
15	chr11:9296600-9333000	Weak transcription	Psoas Muscle	Psoas
16	chr11:9296600-9334800	Weak transcription	Aorta	Aorta
17	chr11:9296800-9319800	Weak transcription	Brain Substantia Nigra	brain
18	chr11:9296800-9332800	Weak transcription	Brain Angular Gyrus	brain
19	chr11:9296800-9333200	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:9296800-9333200	Weak transcription	Ovary	ovary
21	chr11:9297000-9321400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:9297000-9322800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:9297200-9321000	Weak transcription	Left Ventricle	heart
24	chr11:9298200-9323800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:9299200-9320000	Weak transcription	HSMMtube	muscle
26	chr11:9301600-9321200	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:9301600-9321600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:9302200-9324800	Weak transcription	Fetal Brain Male	brain
29	chr11:9302400-9320200	Weak transcription	Stomach Mucosa	stomach
30	chr11:9302600-9317000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr11:9302600-9318200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr11:9302600-9318400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:9302600-9320600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:9302600-9321600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:9302600-9325200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:9302600-9332600	Weak transcription	Esophagus	oesophagus
37	chr11:9302600-9333200	Weak transcription	Spleen	Spleen
38	chr11:9302600-9333400	Weak transcription	Fetal Brain Female	brain
39	chr11:9302600-9333600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:9302600-9334600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr11:9302600-9334800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr11:9302800-9318200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:9302800-9320600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:9302800-9321600	Weak transcription	Brain Anterior Caudate	brain
45	chr11:9302800-9334600	Weak transcription	NH-A	brain
46	chr11:9303200-9315400	Weak transcription	HSMM	muscle
47	chr11:9303200-9318400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:9303200-9320000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr11:9303200-9332000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr11:9303200-9333000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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