Variant report

Variant	rs4944922
Chromosome Location	chr11:74356705-74356706
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74349367..74351238-chr11:74356464..74358460,2	MCF-7	breast:
2	chr11:74355333..74357275-chr11:74357526..74359680,2	K562	blood:
3	chr11:74351806..74354049-chr11:74356172..74358355,3	K562	blood:

Variant related genes	Relation type
ENSG00000077514	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10501417	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs1051058	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899015	0.94[ASN][1000 genomes]
rs10899018	0.97[ASN][1000 genomes]
rs10899023	0.96[ASN][1000 genomes]
rs11236173	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs11236176	0.92[ASN][1000 genomes]
rs12288519	0.94[ASN][1000 genomes]
rs12807398	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1433970	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4145953	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944051	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944052	0.94[ASN][1000 genomes]
rs4944912	0.94[ASN][1000 genomes]
rs4944913	0.94[ASN][1000 genomes]
rs4944914	0.92[ASN][1000 genomes]
rs4944917	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944923	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944925	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4996254	0.93[ASN][1000 genomes]
rs6592577	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs7101472	0.87[ASN][1000 genomes]
rs7106219	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130195	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130839	0.90[ASN][1000 genomes]
rs7925556	0.87[ASN][1000 genomes]
rs7936385	0.97[ASN][1000 genomes]
rs7943085	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs7944208	0.94[ASN][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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74304600-74373800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:74304800-74357800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:74304800-74361400	Weak transcription	Colonic Mucosa	Colon
4	chr11:74314000-74370200	Weak transcription	Psoas Muscle	Psoas
5	chr11:74319200-74366000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:74321600-74364800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:74322200-74357400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:74323000-74356800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:74331400-74383400	Weak transcription	Brain Substantia Nigra	brain
10	chr11:74335200-74356800	Strong transcription	Fetal Thymus	thymus
11	chr11:74335200-74357000	Strong transcription	Dnd41	blood
12	chr11:74336200-74358200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:74340000-74364200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:74344200-74363200	Strong transcription	Primary T cells from cord blood	blood
15	chr11:74344800-74363400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr11:74345600-74359800	Strong transcription	Duodenum Mucosa	Duodenum
17	chr11:74346200-74361000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:74346600-74358000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:74346800-74359400	Weak transcription	Esophagus	oesophagus
20	chr11:74346800-74364800	Weak transcription	Fetal Intestine Small	intestine
21	chr11:74347000-74367400	Weak transcription	Gastric	stomach
22	chr11:74348200-74360600	Weak transcription	NHLF	lung
23	chr11:74348400-74361400	Weak transcription	HSMMtube	muscle
24	chr11:74348400-74361400	Weak transcription	Osteobl	bone
25	chr11:74348400-74364400	Strong transcription	A549	lung
26	chr11:74350000-74357000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:74350800-74360200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:74351400-74361600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:74351800-74357800	Weak transcription	Fetal Lung	lung
30	chr11:74351800-74374200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:74352200-74358000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:74352400-74358400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:74352400-74361200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:74352400-74361400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:74352400-74365000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:74352600-74358400	Weak transcription	Fetal Kidney	kidney
37	chr11:74352600-74361400	Weak transcription	Stomach Mucosa	stomach
38	chr11:74352600-74361600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:74352600-74362600	Weak transcription	HSMM	muscle
40	chr11:74352600-74363600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:74352600-74365000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:74352600-74365800	Weak transcription	Pancreas	Pancrea
43	chr11:74352600-74373600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:74352600-74383400	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:74352800-74357800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:74352800-74358200	Enhancers	Colon Smooth Muscle	Colon
47	chr11:74352800-74358800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr11:74352800-74359400	Weak transcription	Aorta	Aorta
49	chr11:74352800-74362400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:74352800-74363400	Weak transcription	NH-A	brain

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