Variant report

Variant	rs7946801
Chromosome Location	chr11:46569272-46569273
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	chr11:46568146..46571770-chr11:46637257..46640089,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175224	Chromatin interaction
ENSG00000180423	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2891617	1.00[AMR][1000 genomes]
rs3136430	1.00[ASW][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.93[YRI][hapmap]
rs55762640	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56692163	1.00[AMR][1000 genomes]
rs56851661	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58031860	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59379166	1.00[AMR][1000 genomes]
rs61183349	1.00[AMR][1000 genomes]
rs7110413	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7117944	0.82[ASW][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7121799	1.00[AMR][1000 genomes]
rs7342145	0.82[ASW][hapmap];1.00[YRI][hapmap]
rs736633	1.00[AMR][1000 genomes]
rs7938644	0.82[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7946071	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46559400-46575200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:46559400-46575400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:46560200-46569600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:46560200-46570000	Strong transcription	Fetal Muscle Trunk	muscle
5	chr11:46560400-46569400	Strong transcription	Fetal Intestine Large	intestine
6	chr11:46560400-46569600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:46560400-46570000	Strong transcription	GM12878-XiMat	blood
8	chr11:46560400-46570200	Strong transcription	Primary T cells from cord blood	blood
9	chr11:46560600-46570000	Strong transcription	Dnd41	blood
10	chr11:46561000-46569400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:46561000-46569600	Strong transcription	Placenta	Placenta
12	chr11:46561000-46570000	Strong transcription	HepG2	liver
13	chr11:46561000-46570200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr11:46561200-46569400	Strong transcription	Liver	Liver
15	chr11:46561200-46569800	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:46561200-46569800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:46561200-46570000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:46561200-46570600	Strong transcription	Primary B cells from cord blood	blood
19	chr11:46561400-46569800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:46561400-46570000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:46561400-46570000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:46561600-46569400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:46561600-46569400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:46561600-46569600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:46561600-46570000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr11:46561600-46570000	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:46561600-46570000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr11:46561600-46570000	Strong transcription	Fetal Muscle Leg	muscle
29	chr11:46561600-46570400	Strong transcription	Fetal Thymus	thymus
30	chr11:46561800-46569400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:46561800-46569400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr11:46561800-46569400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:46561800-46569600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:46561800-46569600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:46561800-46569800	Strong transcription	Primary hematopoietic stem cells	blood
36	chr11:46561800-46569800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:46561800-46569800	Strong transcription	Hela-S3	cervix
38	chr11:46561800-46570000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:46561800-46570000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr11:46561800-46570000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr11:46561800-46570000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:46561800-46570000	Strong transcription	Thymus	Thymus
43	chr11:46562000-46569600	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:46562000-46569600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:46562200-46569400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:46562200-46569800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:46562400-46569400	Strong transcription	Stomach Smooth Muscle	stomach
48	chr11:46562400-46569400	Strong transcription	HSMM	muscle
49	chr11:46562600-46569400	Strong transcription	Rectal Smooth Muscle	rectum
50	chr11:46562800-46569600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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