Variant report

Variant	rs7104173
Chromosome Location	chr11:94514183-94514184
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:94501203..94503159-chr11:94512241..94514271,2	K562	blood:
2	chr11:94511742..94514553-chr11:94515398..94518558,3	K562	blood:
3	chr11:94512767..94515451-chr11:94518485..94521279,3	K562	blood:
4	chr11:94506655..94509597-chr11:94512174..94516292,5	K562	blood:
5	chr11:94510640..94514831-chr11:94519779..94523218,3	K562	blood:

Variant related genes	Relation type
ENSG00000166025	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10831260	1.00[EUR][1000 genomes]
rs11020882	1.00[EUR][1000 genomes]
rs11020883	1.00[EUR][1000 genomes]
rs11020908	1.00[EUR][1000 genomes]
rs11822848	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11824118	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11825607	1.00[ASW][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[EUR][1000 genomes]
rs12279532	1.00[EUR][1000 genomes]
rs12280828	1.00[EUR][1000 genomes]
rs12283173	1.00[EUR][1000 genomes]
rs12289001	1.00[EUR][1000 genomes]
rs12292410	1.00[EUR][1000 genomes]
rs12295478	1.00[EUR][1000 genomes]
rs16920778	1.00[EUR][1000 genomes]
rs16920838	1.00[EUR][1000 genomes]
rs16921041	1.00[EUR][1000 genomes]
rs16921045	1.00[EUR][1000 genomes]
rs16921099	1.00[EUR][1000 genomes]
rs1940641	1.00[EUR][1000 genomes]
rs4382867	1.00[EUR][1000 genomes]
rs56129264	1.00[EUR][1000 genomes]
rs57727006	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60199624	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61356209	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7111545	1.00[EUR][1000 genomes]
rs7112716	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7350531	1.00[EUR][1000 genomes]
rs7936338	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832234	chr11:94462190-94611845	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv898186	chr11:94463093-94611845	Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94503400-94534000	Weak transcription	Brain Substantia Nigra	brain
2	chr11:94510000-94514400	Weak transcription	Left Ventricle	heart
3	chr11:94510000-94516400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:94510000-94517000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:94510000-94517800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:94510000-94518000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:94510000-94518200	Weak transcription	Fetal Brain Male	brain
8	chr11:94510000-94518600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:94510000-94518800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:94510000-94518800	Weak transcription	Lung	lung
11	chr11:94510000-94518800	Weak transcription	Pancreas	Pancrea
12	chr11:94510000-94521200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:94510000-94521600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:94510000-94527400	Weak transcription	Esophagus	oesophagus
15	chr11:94510000-94532800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:94510200-94516800	Weak transcription	Brain Anterior Caudate	brain
17	chr11:94510200-94517800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:94510200-94518000	Weak transcription	Brain Germinal Matrix	brain
19	chr11:94510200-94518200	Weak transcription	Stomach Mucosa	stomach
20	chr11:94510200-94523800	Weak transcription	Fetal Brain Female	brain
21	chr11:94510400-94515600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:94510400-94521400	Weak transcription	A549	lung
23	chr11:94510600-94519600	Weak transcription	Liver	Liver
24	chr11:94510600-94520000	Weak transcription	Fetal Intestine Small	intestine
25	chr11:94510600-94521200	Weak transcription	HSMMtube	muscle
26	chr11:94511800-94515600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:94512000-94522600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:94512200-94514200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:94512600-94514200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:94512600-94515400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr11:94512800-94515400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr11:94513200-94514400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:94513200-94514400	Enhancers	Rectal Smooth Muscle	rectum
34	chr11:94513200-94514600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr11:94513200-94515400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:94513200-94515400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr11:94513200-94515600	Enhancers	Fetal Lung	lung
38	chr11:94513200-94516600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr11:94513200-94517000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr11:94513200-94517600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr11:94513200-94521000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr11:94513400-94514200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:94513400-94514200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:94513400-94514200	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr11:94513400-94514200	Flanking Active TSS	NHDF-Ad	bronchial
46	chr11:94513400-94514400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr11:94513400-94514400	Enhancers	Fetal Stomach	stomach
48	chr11:94513400-94514400	Flanking Active TSS	NHEK	skin
49	chr11:94513400-94514600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr11:94513400-94514600	Enhancers	Fetal Thymus	thymus

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