Variant report

Variant	rs7553271
Chromosome Location	chr1:154373231-154373232
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	chr1:154372784-154373347	HL-60	blood:	n/a	n/a
2	SPI1	chr1:154372900-154373314	HL-60	blood:	n/a	n/a
3	E2F4	chr1:154373169-154373250	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr1:154372867-154373241	NB4	blood:	n/a	chr1:154373035-154373045

No.	Distal block	Cell Line	Cell type
1	chr1:154372608..154375535-chr1:154376256..154378803,2	MCF-7	breast:
2	chr1:154371558..154374354-chr1:154376569..154379323,3	MCF-7	breast:
3	chr1:154370660..154372172-chr1:154372600..154375178,2	K562	blood:

Variant related genes	Relation type
IL6R	TF binding region
ENSG00000160712	Chromatin interaction
ENSG00000228013	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10908835	0.85[EUR][1000 genomes]
rs11585004	0.87[EUR][1000 genomes]
rs12127600	0.86[EUR][1000 genomes]
rs4845617	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6427627	0.86[EUR][1000 genomes]
rs6427641	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs952146	0.88[EUR][1000 genomes]
rs9651054	0.83[EUR][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	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
5	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7553271	IL6R	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154364400-154377200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:154367200-154374200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:154370000-154377200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:154370400-154375800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr1:154371000-154374000	Weak transcription	HepG2	liver
6	chr1:154371000-154377200	Weak transcription	Adipose Nuclei	Adipose
7	chr1:154371200-154374000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:154371400-154374000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:154372000-154375800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr1:154372400-154376000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr1:154372400-154376400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:154372600-154373400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr1:154372600-154375800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:154372600-154376200	Weak transcription	Spleen	Spleen
15	chr1:154372600-154376800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:154372600-154377000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr1:154372800-154374800	Enhancers	Primary B cells from cord blood	blood
18	chr1:154372800-154374800	Enhancers	Primary T cells from cord blood	blood
19	chr1:154372800-154375800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr1:154372800-154375800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr1:154372800-154375800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:154372800-154377000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr1:154373000-154373800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:154373000-154374000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:154373000-154374000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:154373000-154374200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:154373000-154376000	Weak transcription	Liver	Liver
28	chr1:154373000-154377200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:154373200-154374200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:154373200-154374400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:154373200-154377200	Weak transcription	HUVEC	blood vessel

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