Variant report

Variant	rs7340280
Chromosome Location	chr2:48506644-48506645
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	chr2:48496645..48499568-chr2:48504807..48506955,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10164456	1.00[AMR][1000 genomes]
rs10165262	1.00[AMR][1000 genomes]
rs10167097	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10168301	1.00[AMR][1000 genomes]
rs10169977	1.00[AMR][1000 genomes]
rs10170181	1.00[AMR][1000 genomes]
rs10171243	1.00[AMR][1000 genomes]
rs10177012	1.00[AMR][1000 genomes]
rs10178938	1.00[AMR][1000 genomes]
rs10180159	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10180254	1.00[AMR][1000 genomes]
rs10184942	1.00[AMR][1000 genomes]
rs10186155	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10187019	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10187502	1.00[AMR][1000 genomes]
rs10192404	1.00[AMR][1000 genomes]
rs10197056	1.00[AMR][1000 genomes]
rs10198245	1.00[AMR][1000 genomes]
rs10199098	1.00[AMR][1000 genomes]
rs10199615	1.00[AMR][1000 genomes]
rs10199764	1.00[AMR][1000 genomes]
rs10200180	1.00[AMR][1000 genomes]
rs10204343	1.00[AMR][1000 genomes]
rs10206551	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10208042	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10209432	1.00[AMR][1000 genomes]
rs12328834	1.00[AMR][1000 genomes]
rs12329068	1.00[AMR][1000 genomes]
rs13387285	1.00[AMR][1000 genomes]
rs13387357	1.00[AMR][1000 genomes]
rs13390201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13391880	1.00[AMR][1000 genomes]
rs13396735	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13397110	1.00[AMR][1000 genomes]
rs13397541	1.00[AMR][1000 genomes]
rs13399261	1.00[AMR][1000 genomes]
rs13402261	1.00[AMR][1000 genomes]
rs13408747	1.00[AMR][1000 genomes]
rs13410143	1.00[AMR][1000 genomes]
rs13418349	1.00[AMR][1000 genomes]
rs13419687	1.00[AMR][1000 genomes]
rs13422341	1.00[AMR][1000 genomes]
rs13424478	1.00[AMR][1000 genomes]
rs13424841	1.00[AMR][1000 genomes]
rs13430424	1.00[AMR][1000 genomes]
rs13432235	1.00[AMR][1000 genomes]
rs28623311	1.00[AMR][1000 genomes]
rs28775335	1.00[AMR][1000 genomes]
rs28784960	1.00[AMR][1000 genomes]
rs28893847	1.00[AMR][1000 genomes]
rs7355330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9653522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9653523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9653524	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription 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	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS 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 target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer 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	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48505200-48511600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:48505400-48507600	Weak transcription	Psoas Muscle	Psoas
3	chr2:48505400-48513600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:48505600-48507400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:48505800-48507000	Enhancers	Adipose Nuclei	Adipose
6	chr2:48505800-48507600	Enhancers	Fetal Intestine Large	intestine
7	chr2:48505800-48508000	Enhancers	Fetal Intestine Small	intestine
8	chr2:48506000-48506800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:48506000-48539000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:48506200-48507000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:48506200-48507000	Enhancers	Liver	Liver
12	chr2:48506400-48507400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:48506600-48507400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:48506600-48507400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:48506600-48507400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr2:48506600-48507400	Enhancers	K562	blood
17	chr2:48506600-48510800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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