Variant report

Variant	rs6463553
Chromosome Location	chr7:6406933-6406934
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10499343	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10499344	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1075434	0.81[AMR][1000 genomes]
rs34178055	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34183253	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34609290	0.84[ASN][1000 genomes]
rs34762204	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35057107	0.89[AMR][1000 genomes]
rs35326930	0.84[ASN][1000 genomes]
rs35530051	0.92[ASN][1000 genomes]
rs35589149	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35649698	0.92[ASN][1000 genomes]
rs35699473	0.84[ASN][1000 genomes]
rs35887529	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3729793	0.92[ASN][1000 genomes]
rs4397303	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs56228579	0.92[ASN][1000 genomes]
rs6463552	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6463554	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs768409	0.84[CEU][hapmap];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7784465	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7790101	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7792815	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs929926	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription 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 target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv482829	chr7:6231809-6407606	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1025381	chr7:6356704-6409818	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv605999	chr7:6396719-6472881	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv966752	chr7:6403674-6408528	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv3436197	chr7:6404027-6408225	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6463553	RAC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6388800-6409400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:6401400-6407200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr7:6401800-6407000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:6405800-6407400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:6406400-6408000	Enhancers	Duodenum Mucosa	Duodenum
6	chr7:6406400-6408200	Enhancers	Colonic Mucosa	Colon
7	chr7:6406400-6408200	Enhancers	Fetal Intestine Large	intestine
8	chr7:6406400-6408200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr7:6406800-6407200	Enhancers	K562	blood
10	chr7:6406800-6407400	Enhancers	Hela-S3	cervix
11	chr7:6406800-6408200	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr7:6406800-6408400	Enhancers	Fetal Intestine Small	intestine

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