Variant report

Variant	rs2008211
Chromosome Location	chr18:43921087-43921088
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43912706..43915480-chr18:43919399..43921708,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141622	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10775481	0.80[CHB][hapmap]
rs11082523	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11661206	0.81[EUR][1000 genomes]
rs2000707	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4890642	0.81[CHB][hapmap]
rs4890643	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs7232125	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs8093368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs920781	0.83[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9951141	0.83[CEU][hapmap]
rs9958625	0.90[CHB][hapmap]

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	esv1819321	chr18:43909994-43930972	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv1822108	chr18:43909994-43930972	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv1796458	chr18:43913732-43923851	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv576811	chr18:43913732-43930972	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1814236	chr18:43913834-43923851	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43916000-43924200	Weak transcription	Fetal Kidney	kidney
2	chr18:43916200-43922200	Weak transcription	Adipose Nuclei	Adipose
3	chr18:43916200-43929000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr18:43916600-43923200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr18:43917000-43921200	Enhancers	Liver	Liver
6	chr18:43917000-43923400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr18:43917000-43923600	Weak transcription	NHEK	skin
8	chr18:43917600-43921200	Genic enhancers	Hela-S3	cervix
9	chr18:43917600-43923600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr18:43918000-43923600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr18:43918400-43935800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr18:43918800-43923600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr18:43919000-43923200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr18:43919000-43923400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr18:43919000-43923600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr18:43919000-43923600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr18:43919000-43923600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr18:43919000-43923600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr18:43919000-43923600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr18:43919000-43935600	Weak transcription	Fetal Heart	heart
21	chr18:43919200-43922600	Enhancers	Fetal Brain Male	brain
22	chr18:43919200-43923600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr18:43919200-43923600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr18:43919200-43923800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr18:43919200-43923800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr18:43919600-43923400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr18:43919800-43921200	Enhancers	Left Ventricle	heart
28	chr18:43919800-43921200	Enhancers	Right Ventricle	heart
29	chr18:43919800-43922000	Genic enhancers	Fetal Muscle Leg	muscle
30	chr18:43919800-43926800	Enhancers	Spleen	Spleen
31	chr18:43920000-43923600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr18:43920000-43924400	Weak transcription	Fetal Lung	lung
33	chr18:43920200-43921200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr18:43920200-43921800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr18:43920600-43921400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:43920600-43921400	Enhancers	Fetal Muscle Trunk	muscle
37	chr18:43920800-43921200	Enhancers	Fetal Stomach	stomach
38	chr18:43920800-43923600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr18:43920800-43925400	Enhancers	Lung	lung
40	chr18:43921000-43921200	Flanking Active TSS	Fetal Brain Female	brain
41	chr18:43921000-43921800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr18:43921000-43921800	Weak transcription	Fetal Thymus	thymus
43	chr18:43921000-43921800	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr18:43921000-43923000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr18:43921000-43923000	Weak transcription	Brain Germinal Matrix	brain
46	chr18:43921000-43923200	Weak transcription	Dnd41	blood
47	chr18:43921000-43923400	Weak transcription	Psoas Muscle	Psoas
48	chr18:43921000-43923600	Weak transcription	Esophagus	oesophagus
49	chr18:43921000-43923600	Weak transcription	Right Atrium	heart
50	chr18:43921000-43925200	Weak transcription	Fetal Intestine Small	intestine

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