Variant report

Variant	rs10501994
Chromosome Location	chr11:102046722-102046723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:101980056..101982474-chr11:102046646..102048327,2	MCF-7	breast:
2	chr11:102038383..102041137-chr11:102046263..102048631,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137693	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11225158	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs1365328	1.00[MEX][hapmap]
rs17097479	1.00[AMR][1000 genomes]
rs59109860	1.00[AMR][1000 genomes]
rs7111429	1.00[MEX][hapmap]
rs73582040	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582055	1.00[AFR][1000 genomes];1.00[AMR][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	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv898333	chr11:101832670-102079986	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv832251	chr11:102012295-102181744	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv1043388	chr11:102017719-102172857	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102020400-102049000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:102026400-102059400	Weak transcription	Fetal Brain Male	brain
3	chr11:102028000-102062800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:102028600-102055200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:102029200-102067600	Weak transcription	HSMMtube	muscle
6	chr11:102029400-102050000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:102030200-102048600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:102033400-102061000	Weak transcription	Right Ventricle	heart
9	chr11:102034400-102055200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:102034400-102057200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:102034600-102047600	Weak transcription	Lung	lung
12	chr11:102034600-102049200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:102034600-102049200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:102034600-102076800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:102035400-102055600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:102036000-102069400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:102036200-102050200	Weak transcription	Fetal Intestine Small	intestine
18	chr11:102036400-102047800	Weak transcription	Psoas Muscle	Psoas
19	chr11:102036600-102047600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:102037400-102049800	Weak transcription	Fetal Heart	heart
21	chr11:102039600-102048800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:102039600-102048800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:102039600-102049000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:102039600-102056800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr11:102041000-102047600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:102041600-102062400	Weak transcription	Left Ventricle	heart
27	chr11:102042400-102050000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:102042400-102055400	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:102042600-102047800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:102042600-102048000	Weak transcription	A549	lung
31	chr11:102042800-102049400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:102042800-102057200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:102043000-102047600	Weak transcription	Placenta	Placenta
34	chr11:102043600-102047800	Weak transcription	Small Intestine	intestine
35	chr11:102043800-102047600	Weak transcription	Aorta	Aorta
36	chr11:102043800-102048800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:102043800-102048800	Weak transcription	Stomach Mucosa	stomach
38	chr11:102043800-102051600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:102043800-102077000	Weak transcription	Esophagus	oesophagus
40	chr11:102043800-102100400	Weak transcription	Pancreas	Pancrea
41	chr11:102044000-102047600	Weak transcription	NHLF	lung
42	chr11:102044000-102047800	Weak transcription	HUVEC	blood vessel
43	chr11:102044000-102055200	Weak transcription	Gastric	stomach
44	chr11:102044600-102047000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:102044600-102047200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:102044600-102048200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:102044800-102046800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:102044800-102047200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:102044800-102047200	Strong transcription	Fetal Lung	lung
50	chr11:102044800-102047400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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