Variant report

Variant	rs61882704
Chromosome Location	chr11:46455533-46455534
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46448640..46451542-chr11:46454493..46456535,2	K562	blood:
2	chr11:46450955..46452945-chr11:46454344..46456750,3	MCF-7	breast:
3	chr11:46448640..46452068-chr11:46454493..46457739,3	K562	blood:

Variant related genes	Relation type
ENSG00000244313	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11038827	1.00[ASN][1000 genomes]
rs12292649	1.00[ASN][1000 genomes]
rs28668543	1.00[ASN][1000 genomes]
rs56288505	1.00[ASN][1000 genomes]
rs61882679	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882686	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882744	1.00[ASN][1000 genomes]
rs61882755	1.00[ASN][1000 genomes]
rs61884152	1.00[ASN][1000 genomes]
rs61884270	1.00[ASN][1000 genomes]
rs61884294	1.00[ASN][1000 genomes]
rs61884297	1.00[ASN][1000 genomes]
rs7943416	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1050614	chr11:46414720-46496732	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv541029	chr11:46442658-46460232	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 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	chr11:46417800-46463400	Weak transcription	Fetal Brain Male	brain
2	chr11:46426800-46468800	Weak transcription	Psoas Muscle	Psoas
3	chr11:46430200-46456000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:46433600-46466400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr11:46436600-46466400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:46438000-46461400	Strong transcription	Primary T cells from cord blood	blood
7	chr11:46438400-46457200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:46438400-46459600	Strong transcription	Dnd41	blood
9	chr11:46440400-46466200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:46444000-46456600	Weak transcription	Fetal Heart	heart
11	chr11:46444800-46457200	Weak transcription	Small Intestine	intestine
12	chr11:46445800-46456600	Strong transcription	Duodenum Mucosa	Duodenum
13	chr11:46445800-46458000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:46447000-46457400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:46447200-46457600	Strong transcription	Fetal Stomach	stomach
16	chr11:46447600-46457600	Strong transcription	Liver	Liver
17	chr11:46447600-46457600	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:46447800-46456200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:46447800-46460600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:46448200-46457800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:46448600-46457600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:46448800-46457600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:46448800-46457600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr11:46449000-46456600	Strong transcription	Fetal Muscle Leg	muscle
25	chr11:46449000-46457400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr11:46449600-46457800	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr11:46450000-46457400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:46450400-46458000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:46450600-46456800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:46450800-46456600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:46450800-46456800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:46450800-46457600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:46451000-46456600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr11:46451000-46456800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr11:46451000-46457000	Strong transcription	Fetal Intestine Large	intestine
36	chr11:46451000-46457400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:46451000-46457400	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr11:46451000-46457400	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:46451000-46457400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:46451000-46457600	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr11:46451000-46457800	Strong transcription	HepG2	liver
42	chr11:46451000-46458000	Strong transcription	Placenta	Placenta
43	chr11:46451000-46459600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr11:46451200-46457800	Strong transcription	Fetal Thymus	thymus
45	chr11:46451400-46456800	Strong transcription	Stomach Smooth Muscle	stomach
46	chr11:46451400-46467600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:46451600-46456200	Strong transcription	Pancreas	Pancrea
48	chr11:46451600-46456400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:46451600-46459000	Strong transcription	Primary B cells from cord blood	blood
50	chr11:46451800-46456000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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