Variant report

Variant	rs11581248
Chromosome Location	chr1:160720074-160720075
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:160719419-160720198	GM12891	blood:	n/a	n/a
2	POLR2A	chr1:160719745-160720236	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:160719551-160720151	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:160719471-160721654	GM12892	blood:	n/a	n/a
5	POLR2A	chr1:160718892-160721614	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:160719662-160720335	GM12892	blood:	n/a	n/a
7	POLR2A	chr1:160719773-160720483	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:160720015-160720490	GM12891	blood:	n/a	n/a
9	POLR2A	chr1:160717844-160721547	GM12891	blood:	n/a	n/a
10	POLR2A	chr1:160719424-160721648	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:160717806-160721614	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:160719394-160720157	GM12891	blood:	n/a	n/a
13	POLR2A	chr1:160719605-160721547	GM18505	blood:	n/a	n/a
14	POLR2A	chr1:160719631-160720180	GM12891	blood:	n/a	n/a
15	POLR2A	chr1:160719739-160720078	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SLAMF7	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11577973	1.00[AFR][1000 genomes]
rs34942450	1.00[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	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831714	chr1:160581168-160776809	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv428532	chr1:160671125-160767708	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11581248	SLAMF7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160713000-160720400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:160714400-160726800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr1:160714800-160720800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:160715200-160720200	Weak transcription	Thymus	Thymus
5	chr1:160715200-160722800	Weak transcription	Colonic Mucosa	Colon
6	chr1:160715400-160720600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:160715400-160721200	Weak transcription	Primary T cells from cord blood	blood
8	chr1:160717000-160724400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:160717600-160720200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr1:160717600-160723400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr1:160718000-160721600	Genic enhancers	Primary T cells fromperipheralblood	blood
12	chr1:160718000-160723800	Genic enhancers	GM12878-XiMat	blood
13	chr1:160718400-160721400	Weak transcription	Pancreas	Pancrea
14	chr1:160718400-160726000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr1:160718400-160731000	Weak transcription	Esophagus	oesophagus
16	chr1:160719000-160722400	Weak transcription	Ovary	ovary
17	chr1:160719200-160722200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:160719400-160731200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:160719600-160721600	Weak transcription	NHEK	skin
20	chr1:160719800-160720600	Strong transcription	Duodenum Mucosa	Duodenum
21	chr1:160719800-160721000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:160720000-160720800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:160720000-160720800	Genic enhancers	Spleen	Spleen
24	chr1:160720000-160723000	Enhancers	Fetal Thymus	thymus

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