Variant report

Variant	rs57233238
Chromosome Location	chr6:147540262-147540263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147178794..147181381-chr6:147540119..147542415,2	K562	blood:
2	chr6:147483460..147485748-chr6:147538509..147541125,2	K562	blood:
3	chr6:147523543..147527462-chr6:147538561..147541910,5	MCF-7	breast:
4	chr6:147537663..147540561-chr6:147542025..147543593,2	MCF-7	breast:
5	chr6:147224255..147227210-chr6:147538729..147540565,2	K562	blood:

Variant related genes	Relation type
ENSG00000164506	Chromatin interaction
ENSG00000227748	Chromatin interaction
ENSG00000233452	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11965185	1.00[AMR][1000 genomes]
rs56700189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56989474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57284678	1.00[AMR][1000 genomes]
rs57356769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57807457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58756001	1.00[AMR][1000 genomes]
rs60426717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61377514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9497716	1.00[AMR][1000 genomes]
rs9497717	1.00[AMR][1000 genomes]
rs9497718	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1820434	chr6:147518489-147543262	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv886753	chr6:147526508-147680291	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv470864	chr6:147539165-147709179	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv886754	chr6:147539165-147729477	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv604840	chr6:147539165-147730324	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147526000-147543400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:147526000-147543400	Weak transcription	Pancreas	Pancrea
3	chr6:147526000-147572200	Weak transcription	Lung	lung
4	chr6:147526400-147543200	Weak transcription	Stomach Mucosa	stomach
5	chr6:147526400-147543400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:147526400-147543400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:147527200-147543400	Weak transcription	Fetal Thymus	thymus
8	chr6:147527200-147543600	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:147527200-147544400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr6:147527200-147547400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:147527200-147548400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr6:147527200-147549000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:147527200-147557800	Weak transcription	Fetal Stomach	stomach
14	chr6:147527200-147570000	Weak transcription	Left Ventricle	heart
15	chr6:147527200-147572000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:147527200-147572200	Weak transcription	Esophagus	oesophagus
17	chr6:147527400-147543000	Weak transcription	Fetal Intestine Small	intestine
18	chr6:147527400-147543200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:147527400-147543200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:147527400-147558800	Weak transcription	Primary B cells from cord blood	blood
21	chr6:147527400-147563800	Weak transcription	NH-A	brain
22	chr6:147527400-147566800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:147527400-147576400	Weak transcription	HSMMtube	muscle
24	chr6:147527600-147549200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:147527600-147559600	Weak transcription	Colon Smooth Muscle	Colon
26	chr6:147527800-147543000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr6:147527800-147586800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:147528000-147543200	Weak transcription	HepG2	liver
29	chr6:147528200-147551800	Weak transcription	HUVEC	blood vessel
30	chr6:147528800-147545000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:147528800-147549000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:147528800-147565800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr6:147528800-147572000	Weak transcription	A549	lung
34	chr6:147529000-147544800	Weak transcription	Brain Angular Gyrus	brain
35	chr6:147529000-147572200	Weak transcription	Aorta	Aorta
36	chr6:147529200-147542800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:147529200-147543200	Weak transcription	GM12878-XiMat	blood
38	chr6:147529200-147543400	Weak transcription	NHLF	lung
39	chr6:147529400-147571800	Weak transcription	Fetal Brain Male	brain
40	chr6:147529600-147543400	Weak transcription	Adipose Nuclei	Adipose
41	chr6:147529600-147549000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:147529800-147543000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr6:147529800-147543200	Weak transcription	Brain Hippocampus Middle	brain
44	chr6:147529800-147543200	Weak transcription	NHDF-Ad	bronchial
45	chr6:147529800-147549000	Weak transcription	HMEC	breast
46	chr6:147530000-147572000	Weak transcription	NHEK	skin
47	chr6:147530200-147548600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr6:147531000-147543400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr6:147531000-147543600	Weak transcription	Fetal Brain Female	brain
50	chr6:147531200-147543200	Weak transcription	Brain Substantia Nigra	brain

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