Variant report

Variant	rs140310708
Chromosome Location	chr11:8849442-8849443
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	chr11:8847275..8850671-chr11:8853327..8856938,3	K562	blood:

Variant related genes	Relation type
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv527920	chr11:8816695-8856822	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3372624	chr11:8848476-8852774	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8833200-8859800	Weak transcription	Aorta	Aorta
2	chr11:8836400-8849800	Weak transcription	Fetal Intestine Small	intestine
3	chr11:8836600-8850400	Weak transcription	Fetal Lung	lung
4	chr11:8837000-8850000	Weak transcription	Lung	lung
5	chr11:8839200-8849600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:8845200-8854200	Weak transcription	Psoas Muscle	Psoas
7	chr11:8845800-8860000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:8846600-8854400	Weak transcription	Fetal Intestine Large	intestine
9	chr11:8847000-8852800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:8847200-8849800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr11:8847200-8849800	Enhancers	NHLF	lung
12	chr11:8847400-8850400	Enhancers	K562	blood
13	chr11:8847600-8849600	Enhancers	Placenta	Placenta
14	chr11:8847600-8850400	Enhancers	Ovary	ovary
15	chr11:8847600-8852600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:8848000-8849600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:8848000-8850200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:8848000-8850400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr11:8848000-8852800	Enhancers	Fetal Thymus	thymus
20	chr11:8848200-8849600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr11:8848200-8853400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:8848400-8849600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr11:8848400-8850400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:8848400-8850400	Weak transcription	Fetal Kidney	kidney
25	chr11:8848400-8850400	Enhancers	HSMMtube	muscle
26	chr11:8848400-8850800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr11:8848600-8849600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:8848600-8849600	Weak transcription	Brain Anterior Caudate	brain
29	chr11:8848600-8850800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:8848600-8850800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr11:8848800-8849800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:8848800-8849800	Enhancers	Spleen	Spleen
33	chr11:8848800-8850200	Enhancers	HSMM	muscle
34	chr11:8848800-8852200	Strong transcription	Fetal Muscle Trunk	muscle
35	chr11:8848800-8852400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr11:8848800-8853000	Weak transcription	HMEC	breast
37	chr11:8849000-8849800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:8849000-8849800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:8849000-8849800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:8849000-8850200	Weak transcription	Osteobl	bone
41	chr11:8849000-8850400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:8849000-8850400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr11:8849000-8850600	Weak transcription	Esophagus	oesophagus
44	chr11:8849000-8852600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:8849000-8852600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:8849000-8853000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:8849000-8853800	Genic enhancers	Fetal Muscle Leg	muscle
48	chr11:8849000-8854000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:8849000-8854000	Strong transcription	Fetal Stomach	stomach
50	chr11:8849000-8854000	Weak transcription	Stomach Mucosa	stomach

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