Variant report

Variant	rs10840204
Chromosome Location	chr11:9333089-9333090
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9328690..9334073-chr11:9404480..9408917,7	K562	blood:
2	chr11:9328102..9338305-chr11:9404480..9412498,38	K562	blood:
3	chr11:9283945..9288774-chr11:9332278..9339081,12	K562	blood:
4	chr11:8985177..8988020-chr11:9331940..9333549,2	K562	blood:

Variant related genes	Relation type
ENSG00000175348	Chromatin interaction
ENSG00000184014	Chromatin interaction
ENSG00000254860	Chromatin interaction
ENSG00000205339	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10743104	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10743105	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10770002	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10770003	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10770004	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10770006	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10770008	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10770009	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10770010	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10770013	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10770016	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10840196	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10840199	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10840200	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10840205	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840207	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10840208	0.86[ASN][1000 genomes]
rs11042252	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11042256	0.86[ASN][1000 genomes]
rs11042262	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042264	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042265	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042266	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042267	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042269	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042274	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11042278	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11500788	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11602591	0.86[ASN][1000 genomes]
rs12796666	0.81[ASN][1000 genomes]
rs12801814	0.85[ASN][1000 genomes]
rs2133216	0.83[ASN][1000 genomes]
rs34446443	0.85[ASN][1000 genomes]
rs34716494	0.83[ASN][1000 genomes]
rs35381016	0.83[ASN][1000 genomes]
rs35686957	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4325312	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4343026	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4369406	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4447178	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4570580	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4601779	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4641476	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5014247	0.85[ASN][1000 genomes]
rs61875672	0.85[ASN][1000 genomes]
rs61875673	0.86[ASN][1000 genomes]
rs61877916	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7101432	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7121013	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123342	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71476818	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7358313	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7358392	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7952508	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
9	esv1810183	chr11:9323886-9334961	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv553464	chr11:9323886-9334961	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv971985	chr11:9330461-9333340	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9287800-9333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:9296600-9334800	Weak transcription	Aorta	Aorta
3	chr11:9296800-9333200	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:9296800-9333200	Weak transcription	Ovary	ovary
5	chr11:9302600-9333200	Weak transcription	Spleen	Spleen
6	chr11:9302600-9333400	Weak transcription	Fetal Brain Female	brain
7	chr11:9302600-9333600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:9302600-9334600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:9302600-9334800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:9302800-9334600	Weak transcription	NH-A	brain
11	chr11:9303400-9334000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:9308200-9334800	Weak transcription	Primary B cells from cord blood	blood
13	chr11:9309400-9333800	Weak transcription	Adipose Nuclei	Adipose
14	chr11:9312600-9333200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:9312600-9334600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:9317000-9334800	Weak transcription	Placenta	Placenta
17	chr11:9318800-9333200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:9319600-9333800	Weak transcription	NHLF	lung
19	chr11:9319800-9333800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr11:9319800-9334800	Weak transcription	Fetal Intestine Large	intestine
21	chr11:9320200-9333800	Weak transcription	Right Atrium	heart
22	chr11:9320400-9333800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:9320600-9333800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:9320600-9334600	Weak transcription	HSMMtube	muscle
25	chr11:9320600-9334800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:9320800-9333200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:9320800-9333400	Weak transcription	Fetal Lung	lung
28	chr11:9321000-9333600	Weak transcription	Small Intestine	intestine
29	chr11:9321200-9333200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr11:9321200-9333600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:9321200-9334000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:9321200-9334800	Weak transcription	Fetal Muscle Leg	muscle
33	chr11:9321200-9335200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr11:9321400-9333600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:9321400-9334600	Weak transcription	Osteobl	bone
36	chr11:9321400-9335000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:9321400-9335200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:9321600-9333600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:9321600-9333800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:9321600-9333800	Weak transcription	Fetal Stomach	stomach
41	chr11:9321600-9334600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr11:9321600-9334800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr11:9321800-9334800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:9322000-9333600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:9322000-9334000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:9322000-9334600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr11:9323600-9334600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr11:9324400-9333400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr11:9324400-9334600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:9328800-9333200	Weak transcription	A549	lung

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