Variant report

Variant	rs11563074
Chromosome Location	chr2:234740061-234740062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234614862..234617067-chr2:234739874..234742811,2	MCF-7	breast:
2	chr2:234404504..234406876-chr2:234739242..234740869,2	MCF-7	breast:
3	chr2:234607784..234610773-chr2:234739083..234742311,4	MCF-7	breast:
4	chr2:234160919..234163001-chr2:234739570..234741620,2	MCF-7	breast:
5	chr2:234738464..234743191-chr2:234754553..234759702,7	K562	blood:
6	chr2:234599519..234601666-chr2:234740030..234742555,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167165	Chromatin interaction
ENSG00000123485	Chromatin interaction

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

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

rs_ID	r²[population]
rs28900696	1.00[JPT][hapmap]
rs28900705	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs28900707	1.00[JPT][hapmap]
rs28900708	1.00[JPT][hapmap]
rs28901881	1.00[JPT][hapmap]
rs28902216	1.00[JPT][hapmap]
rs28902225	1.00[JPT][hapmap]

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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv876020	chr2:234724225-234748814	Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv470523	chr2:234725819-234740490	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv876021	chr2:234725819-234748814	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv876022	chr2:234726154-234748814	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv876023	chr2:234726154-234763137	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv984453	chr2:234726749-234740629	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv1008316	chr2:234728911-234758539	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234731800-234741200	Weak transcription	Fetal Intestine Small	intestine
2	chr2:234732000-234741200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:234732200-234742000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:234733400-234742200	Weak transcription	Liver	Liver
5	chr2:234736400-234762600	Weak transcription	Right Atrium	heart
6	chr2:234737800-234741600	Weak transcription	Dnd41	blood
7	chr2:234738200-234741000	Weak transcription	Osteobl	bone
8	chr2:234738200-234744000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:234738200-234762000	Weak transcription	Esophagus	oesophagus
10	chr2:234738400-234741600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:234738400-234741800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:234738800-234743000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:234738800-234744000	Weak transcription	NHLF	lung
14	chr2:234739000-234740800	Strong transcription	Fetal Stomach	stomach
15	chr2:234739000-234742600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:234739000-234742600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr2:234739200-234740200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:234739200-234740200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:234739200-234740200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:234739200-234740200	Enhancers	HMEC	breast
21	chr2:234739200-234742600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:234739200-234743000	Weak transcription	HepG2	liver
23	chr2:234739400-234740200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:234739400-234741000	Genic enhancers	A549	lung
25	chr2:234739400-234742600	Enhancers	Fetal Muscle Trunk	muscle
26	chr2:234739400-234744000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:234739600-234740200	Enhancers	NHEK	skin
28	chr2:234739600-234740400	Enhancers	Primary B cells from peripheral blood	blood
29	chr2:234739600-234747600	Weak transcription	Brain Germinal Matrix	brain
30	chr2:234739800-234740200	Enhancers	Primary B cells from cord blood	blood
31	chr2:234739800-234742600	Enhancers	Fetal Muscle Leg	muscle
32	chr2:234739800-234752800	Weak transcription	Spleen	Spleen
33	chr2:234740000-234740200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:234740000-234740200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:234740000-234741400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:234740000-234742400	Weak transcription	Fetal Thymus	thymus
37	chr2:234740000-234760000	Strong transcription	Thymus	Thymus

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