Variant report

Variant	rs4845617
Chromosome Location	chr1:154377898-154377899
allele	A/G
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	TFAP2C	chr1:154377202-154379068	Hela-S3	cervix:	n/a	n/a
2	ELF1	chr1:154377482-154377901	GM12878	blood:	n/a	n/a
3	ELF1	chr1:154377195-154378613	MCF-7	breast:	n/a	n/a
4	GTF2F1	chr1:154377434-154377963	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr1:154377420-154378085	MCF-7	breast:	n/a	chr1:154377745-154377756
6	CTCF	chr1:154377446-154377927	A549	lung:	n/a	chr1:154377599-154377617
7	POLR2A	chr1:154377790-154378001	HepG2	liver:	n/a	n/a
8	MAX	chr1:154377377-154378540	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr1:154377743-154377976	HepG2	liver:	n/a	n/a
10	MXI1	chr1:154377516-154378827	HepG2	liver:	n/a	n/a
11	POLR2A	chr1:154377622-154377983	U87	brain:	n/a	n/a
12	ELF1	chr1:154377490-154378898	GM12878	blood:	n/a	n/a
13	STAT5A	chr1:154377247-154377923	GM12878	blood:	n/a	n/a
14	RAD21	chr1:154377573-154377898	GM12878	blood:	n/a	chr1:154377599-154377611 chr1:154377600-154377613
15	EGR1	chr1:154377580-154377931	K562	blood:	n/a	chr1:154377712-154377726
16	RFX5	chr1:154377360-154378919	Hela-S3	cervix:	n/a	n/a
17	ZBTB7A	chr1:154377593-154377906	K562	blood:	n/a	n/a
18	FOSL1	chr1:154377685-154377982	K562	blood:	n/a	chr1:154377855-154377863 chr1:154377855-154377863 chr1:154377853-154377864 chr1:154377756-154377770 chr1:154377853-154377864 chr1:154377856-154377863
19	POLR2A	chr1:154377569-154378482	A549	lung:	n/a	n/a
20	CTCF	chr1:154377423-154377898	K562	blood:	n/a	chr1:154377599-154377617
21	JUND	chr1:154377524-154378016	K562	blood:	n/a	chr1:154377855-154377863 chr1:154377855-154377863 chr1:154377853-154377864 chr1:154377756-154377770 chr1:154377856-154377863 chr1:154377853-154377864
22	CEBPB	chr1:154377003-154378045	HCT-116	colon:	n/a	chr1:154377745-154377756
23	JUND	chr1:154377740-154377946	H1-hESC	embryonic stem cell:	n/a	chr1:154377855-154377863 chr1:154377855-154377863 chr1:154377853-154377864 chr1:154377756-154377770 chr1:154377856-154377863 chr1:154377853-154377864
24	CTCF	chr1:154377396-154377920	K562	blood:	n/a	chr1:154377599-154377617
25	MAX	chr1:154377356-154379197	A549	lung:	n/a	chr1:154378849-154378860 chr1:154378850-154378859
26	BRCA1	chr1:154377478-154377958	Hela-S3	cervix:	n/a	chr1:154377635-154377642
27	ZNF143	chr1:154377428-154378537	GM12878	blood:	n/a	chr1:154377928-154377946
28	USF1	chr1:154377755-154377936	SK-N-SH_RA	brain:	n/a	n/a
29	NR3C1	chr1:154377607-154377977	A549	lung:	n/a	n/a
30	POLR2A	chr1:154377601-154377992	A549	lung:	n/a	n/a
31	SMC3	chr1:154377493-154377924	HepG2	liver:	n/a	chr1:154377608-154377615 chr1:154377601-154377615
32	STAT3	chr1:154377699-154377972	MCF10A-Er-Src	breast:	n/a	n/a
33	RAD21	chr1:154377462-154377942	SK-N-SH_RA	brain:	n/a	chr1:154377599-154377611 chr1:154377600-154377613
34	CTCF	chr1:154377526-154377923	A549	lung:	n/a	chr1:154377599-154377617
35	RAD21	chr1:154377195-154378165	HCT-116	colon:	n/a	chr1:154377599-154377611 chr1:154377600-154377613
36	POLR2A	chr1:154377721-154378400	ProgFib	skin:	n/a	n/a
37	REST	chr1:154377687-154377949	K562	blood:	n/a	n/a
38	CEBPB	chr1:154377442-154377973	K562	blood:	n/a	chr1:154377745-154377756
39	POLR2A	chr1:154377547-154377993	HCT-116	colon:	n/a	n/a
40	MXI1	chr1:154377522-154379078	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr1:154377353-154377969	MCF-7	breast:	n/a	chr1:154377599-154377617
42	POLR2A	chr1:154376163-154378201	K562	blood:	n/a	n/a
43	SPI1	chr1:154377638-154377942	K562	blood:	n/a	n/a
44	POLR2A	chr1:154377622-154377977	U87	brain:	n/a	n/a
45	POLR2A	chr1:154377680-154377985	U87	brain:	n/a	n/a
46	E2F6	chr1:154377438-154378006	A549	lung:	n/a	chr1:154377979-154377989
47	SMARCB1	chr1:154377058-154379044	Hela-S3	cervix:	n/a	chr1:154378727-154378736
48	SIN3A	chr1:154377533-154378830	H1-hESC	embryonic stem cell:	n/a	chr1:154377699-154377712 chr1:154377976-154377989
49	UBTF	chr1:154377616-154378292	K562	blood:	n/a	n/a
50	E2F4	chr1:154377619-154377953	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:154377039..154379691-chr1:154908164..154910149,2	MCF-7	breast:
2	chr1:154377729..154378301-chr12:122239727..122240639,2	Hela-S3	cervix:
3	chr1:154296377..154299135-chr1:154376809..154380119,3	MCF-7	breast:
4	chr1:154377822..154378480-chr2:54197817..54198522,2	HCT-116	colon:
5	chr1:154299527..154302035-chr1:154376161..154379116,2	MCF-7	breast:
6	chr1:154299639..154302456-chr1:154376264..154378731,2	MCF-7	breast:
7	chr1:154377790..154378688-chr14:50359280..50360086,2	Hela-S3	cervix:
8	chr1:154191996..154194542-chr1:154375833..154378809,3	MCF-7	breast:
9	chr1:154154370..154156741-chr1:154377003..154381011,5	MCF-7	breast:

Variant related genes	Relation type
IL6R	TF binding region
ENSG00000212694	Chromatin interaction
ENSG00000165527	Chromatin interaction
ENSG00000068878	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000170634	Chromatin interaction
ENSG00000143515	Chromatin interaction
ENSG00000270361	Chromatin interaction
ENSG00000163344	Chromatin interaction
ENSG00000143612	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	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs11585004	0.86[EUR][1000 genomes]
rs12127600	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs6427627	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs6427641	0.81[CEU][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7553271	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs952146	1.00[CEU][hapmap];0.87[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
rs4845617	IL6R	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154377000-154378200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:154377000-154378800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr1:154377000-154378800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:154377000-154381000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr1:154377000-154381200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:154377200-154378000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:154377200-154378200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr1:154377200-154378400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr1:154377200-154378600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr1:154377200-154378800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:154377200-154379400	Active TSS	Esophagus	oesophagus
12	chr1:154377200-154380400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:154377200-154381200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:154377400-154378000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
15	chr1:154377400-154378000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
16	chr1:154377400-154378000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
17	chr1:154377400-154378000	Flanking Active TSS	Pancreas	Pancrea
18	chr1:154377400-154378200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:154377400-154378400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:154377400-154378400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:154377400-154378400	Bivalent/Poised TSS	Fetal Kidney	kidney
22	chr1:154377400-154378600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr1:154377400-154378800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:154377400-154378800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr1:154377400-154378800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:154377400-154378800	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:154377400-154378800	Active TSS	Brain Cingulate Gyrus	brain
28	chr1:154377400-154378800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
29	chr1:154377400-154379000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr1:154377400-154379000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:154377400-154379000	Active TSS	Aorta	Aorta
32	chr1:154377400-154379000	Bivalent Enhancer	Fetal Brain Male	brain
33	chr1:154377400-154379000	Active TSS	Gastric	stomach
34	chr1:154377400-154379000	Active TSS	Ovary	ovary
35	chr1:154377400-154379400	Active TSS	Left Ventricle	heart
36	chr1:154377400-154379400	Active TSS	Psoas Muscle	Psoas
37	chr1:154377400-154379600	Active TSS	Right Ventricle	heart
38	chr1:154377400-154379800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:154377400-154379800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:154377400-154380800	Flanking Active TSS	HMEC	breast
41	chr1:154377400-154381200	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr1:154377600-154378000	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr1:154377600-154378000	Flanking Bivalent TSS/Enh	K562	blood
44	chr1:154377600-154378200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
45	chr1:154377600-154378200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:154377600-154378200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:154377600-154378200	Active TSS	Primary B cells from peripheral blood	blood
48	chr1:154377600-154378200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr1:154377600-154378200	Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr1:154377600-154378200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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