Variant report

Variant	rs342327
Chromosome Location	chr11:72364593-72364594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72310303..72312102-chr11:72363033..72365890,2	MCF-7	breast:
2	chr11:72335997..72337699-chr11:72363120..72365299,2	K562	blood:
3	chr11:72362926..72365327-chr11:72366143..72368389,2	MCF-7	breast:
4	chr11:72168860..72170475-chr11:72364322..72366473,2	MCF-7	breast:
5	chr11:72354924..72356941-chr11:72362580..72364598,3	K562	blood:
6	chr11:72352579..72354601-chr11:72363980..72365561,2	K562	blood:

Variant related genes	Relation type
ENSG00000186642	Chromatin interaction
ENSG00000255808	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs180539	0.85[AFR][1000 genomes]
rs341036	1.00[AFR][1000 genomes]
rs341037	1.00[AFR][1000 genomes]
rs341084	1.00[YRI][hapmap]
rs415603	1.00[AFR][1000 genomes]
rs456119	0.85[AFR][1000 genomes]

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	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
4	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv825991	chr11:72320642-72385221	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72354600-72365000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:72361800-72379400	Weak transcription	Brain Angular Gyrus	brain
3	chr11:72363400-72365200	Enhancers	K562	blood
4	chr11:72363400-72366000	Enhancers	Brain Anterior Caudate	brain
5	chr11:72363400-72369400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:72363600-72364600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr11:72363600-72365000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:72363600-72365600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:72363800-72364600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr11:72363800-72364600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr11:72363800-72364600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr11:72363800-72364600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:72363800-72365000	Enhancers	Spleen	Spleen
14	chr11:72363800-72365200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:72363800-72365200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:72363800-72365200	Enhancers	Fetal Brain Female	brain
17	chr11:72363800-72365400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:72363800-72365800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr11:72363800-72368000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:72364000-72364600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr11:72364000-72365000	Enhancers	Fetal Brain Male	brain
22	chr11:72364000-72365000	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr11:72364000-72365200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:72364000-72365200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr11:72364200-72365400	Enhancers	Brain Germinal Matrix	brain
26	chr11:72364400-72364600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:72364400-72365000	Bivalent Enhancer	Fetal Intestine Large	intestine
28	chr11:72364400-72368200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:72364400-72370400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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