Variant report

Variant	rs737451
Chromosome Location	chr11:45185196-45185197
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45179374..45181360-chr11:45184809..45187751,2	K562	blood:
2	chr11:45167897..45170381-chr11:45182910..45186280,3	MCF-7	breast:
3	chr11:45184562..45186695-chr11:45200479..45203077,3	MCF-7	breast:
4	chr11:45173610..45176134-chr11:45184836..45187202,2	K562	blood:
5	chr11:45184515..45187339-chr11:45200209..45203185,3	MCF-7	breast:
6	chr11:45184640..45186467-chr11:45245800..45248700,2	MCF-7	breast:
7	chr11:45167891..45170733-chr11:45184381..45188024,4	K562	blood:

Variant related genes	Relation type
ENSG00000019485	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10160228	0.91[CEU][hapmap]
rs12289677	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12573851	0.89[CEU][hapmap]
rs12573853	0.92[CEU][hapmap]
rs2012408	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2863154	1.00[JPT][hapmap]
rs2902425	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4755954	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4755959	0.92[CEU][hapmap]
rs6485591	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6485593	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7108362	0.92[CEU][hapmap]
rs7131444	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7482212	0.82[CHB][hapmap];1.00[JPT][hapmap]

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	nsv825852	chr11:45141386-45228580	Bivalent/Poised TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv541025	chr11:45154352-45193352	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv1048493	chr11:45166054-45205695	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45169800-45188000	Weak transcription	Primary T cells from cord blood	blood
2	chr11:45170000-45190000	Weak transcription	Primary B cells from cord blood	blood
3	chr11:45170400-45185200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr11:45172400-45190000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:45175600-45186200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:45176000-45186600	Genic enhancers	Fetal Stomach	stomach
7	chr11:45178200-45187600	Enhancers	Fetal Heart	heart
8	chr11:45178400-45185200	Enhancers	Fetal Muscle Leg	muscle
9	chr11:45178800-45186800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr11:45180000-45193000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:45180200-45185400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:45180200-45185600	Weak transcription	HMEC	breast
13	chr11:45180600-45185800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:45180800-45185200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:45181600-45193600	Weak transcription	Fetal Intestine Large	intestine
16	chr11:45182000-45187200	Enhancers	Brain Angular Gyrus	brain
17	chr11:45182200-45185800	Enhancers	Lung	lung
18	chr11:45182200-45186600	Enhancers	Fetal Muscle Trunk	muscle
19	chr11:45182200-45186800	Enhancers	Brain Hippocampus Middle	brain
20	chr11:45182200-45187200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr11:45182400-45185600	Enhancers	Spleen	Spleen
22	chr11:45182400-45186400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:45182400-45187000	Enhancers	Right Ventricle	heart
24	chr11:45182400-45187400	Enhancers	Ovary	ovary
25	chr11:45183000-45186800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr11:45183200-45186600	Enhancers	Fetal Brain Female	brain
27	chr11:45183600-45185800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:45183600-45186600	Enhancers	Brain Germinal Matrix	brain
29	chr11:45183600-45186800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr11:45183600-45200400	Weak transcription	Esophagus	oesophagus
31	chr11:45183800-45185400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:45183800-45185600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:45183800-45185800	Enhancers	Stomach Smooth Muscle	stomach
34	chr11:45183800-45186200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:45183800-45187400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr11:45183800-45188200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:45183800-45190400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:45183800-45190800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr11:45183800-45201200	Weak transcription	Gastric	stomach
40	chr11:45184000-45185400	Weak transcription	Brain Anterior Caudate	brain
41	chr11:45184000-45185600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:45184200-45188400	Strong transcription	Fetal Intestine Small	intestine
43	chr11:45184200-45190000	Weak transcription	Fetal Lung	lung
44	chr11:45184400-45185400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:45184400-45186400	Enhancers	Left Ventricle	heart
46	chr11:45184400-45186400	Enhancers	Right Atrium	heart
47	chr11:45184600-45185200	Weak transcription	Psoas Muscle	Psoas
48	chr11:45184600-45185600	Weak transcription	Brain Substantia Nigra	brain
49	chr11:45184600-45186600	Enhancers	HSMMtube	muscle
50	chr11:45184600-45187600	Enhancers	Fetal Brain Male	brain

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