Variant report

Variant	rs11992280
Chromosome Location	chr8:42620441-42620442
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	chr8:42618919..42621938-chr8:42622007..42624761,3	K562	blood:

Variant related genes	Relation type
ENSG00000147434	Chromatin interaction

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

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

rs_ID	r²[population]
rs11985288	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11990955	1.00[YRI][hapmap]
rs11993799	1.00[YRI][hapmap]
rs59122469	0.92[AFR][1000 genomes]
rs59528205	1.00[AFR][1000 genomes]
rs60516930	1.00[AFR][1000 genomes]
rs73633731	0.85[AFR][1000 genomes]
rs73633735	0.92[AFR][1000 genomes]
rs73633736	0.85[AFR][1000 genomes]
rs73633739	0.92[AFR][1000 genomes]
rs73633798	1.00[AFR][1000 genomes]
rs73633802	1.00[AFR][1000 genomes]
rs73634620	0.92[AFR][1000 genomes]
rs73634630	0.84[AFR][1000 genomes]

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	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 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	chr8:42608800-42629200	Weak transcription	Right Atrium	heart
2	chr8:42616200-42623400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:42617200-42622400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:42618200-42620600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:42618200-42620800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:42618400-42620600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:42618400-42620800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:42618400-42621000	Enhancers	GM12878-XiMat	blood
9	chr8:42618600-42620800	Enhancers	Fetal Thymus	thymus
10	chr8:42619400-42622000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr8:42619400-42623200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr8:42619400-42623400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr8:42619600-42621800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:42619800-42620600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:42619800-42620600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:42619800-42620600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:42619800-42620600	Bivalent Enhancer	HepG2	liver
18	chr8:42619800-42620800	Enhancers	Dnd41	blood
19	chr8:42620000-42620600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:42620000-42620600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:42620000-42620600	Bivalent Enhancer	Brain Anterior Caudate	brain
22	chr8:42620000-42620600	Enhancers	Brain Hippocampus Middle	brain
23	chr8:42620000-42620800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr8:42620000-42623600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:42620200-42620600	Enhancers	Brain Substantia Nigra	brain
26	chr8:42620200-42620600	Enhancers	Fetal Muscle Leg	muscle
27	chr8:42620400-42620600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:42620400-42620600	Enhancers	Brain Cingulate Gyrus	brain
29	chr8:42620400-42623600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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