Variant report

Variant	rs73014279
Chromosome Location	chr1:154403414-154403415
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	RCOR1	chr1:154403378-154403835	K562	blood:	n/a	n/a
2	EGR1	chr1:154403381-154403680	K562	blood:	n/a	chr1:154403500-154403515
3	TEAD4	chr1:154403301-154403735	K562	blood:	n/a	n/a
4	RCOR1	chr1:154402901-154404914	IMR90	lung:	n/a	n/a
5	STAT3	chr1:154403283-154403431	MCF10A-Er-Src	breast:	n/a	n/a
6	EGR1	chr1:154403375-154403706	K562	blood:	n/a	chr1:154403500-154403515
7	GATA1	chr1:154403213-154403855	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154401123..154404227-chr1:154404483..154407452,3	MCF-7	breast:

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

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11265614	1.00[EUR][1000 genomes]
rs2229237	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35938325	1.00[EUR][1000 genomes]
rs41308415	1.00[EUR][1000 genomes]
rs41310931	0.89[EUR][1000 genomes]
rs57342848	1.00[EUR][1000 genomes]
rs58229059	1.00[EUR][1000 genomes]
rs58281895	1.00[EUR][1000 genomes]
rs59502179	1.00[EUR][1000 genomes]
rs73014267	1.00[EUR][1000 genomes]
rs73014271	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73016210	1.00[EUR][1000 genomes]
rs73026642	0.83[AFR][1000 genomes];1.00[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

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154393000-154405800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
2	chr1:154393800-154403600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:154394000-154404000	Weak transcription	GM12878-XiMat	blood
4	chr1:154397000-154414200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:154397200-154403800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:154399400-154405800	Enhancers	Right Atrium	heart
7	chr1:154399400-154407200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:154399600-154403600	Enhancers	Fetal Intestine Small	intestine
9	chr1:154399600-154403800	Enhancers	Gastric	stomach
10	chr1:154399600-154404400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr1:154399600-154404800	Enhancers	Brain Germinal Matrix	brain
12	chr1:154399600-154406800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:154399600-154409200	Enhancers	Placenta	Placenta
14	chr1:154399800-154404000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:154399800-154405600	Enhancers	Fetal Intestine Large	intestine
16	chr1:154399800-154405800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
17	chr1:154399800-154406200	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr1:154400200-154404000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
19	chr1:154400600-154403600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:154400600-154403600	Weak transcription	A549	lung
21	chr1:154400600-154405200	Weak transcription	Fetal Thymus	thymus
22	chr1:154400800-154403600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:154400800-154410600	Strong transcription	Primary T cells from cord blood	blood
24	chr1:154401000-154403600	Strong transcription	Spleen	Spleen
25	chr1:154401000-154406000	Genic enhancers	Liver	Liver
26	chr1:154401200-154403600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:154401200-154404000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr1:154401200-154405000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:154401200-154406200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:154401200-154406600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
31	chr1:154401400-154404200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:154401400-154404400	Weak transcription	Adipose Nuclei	Adipose
33	chr1:154401600-154405000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:154401600-154405600	Weak transcription	Fetal Lung	lung
35	chr1:154401800-154403600	Genic enhancers	Monocytes-CD14+_RO01746	blood
36	chr1:154401800-154404200	Weak transcription	Esophagus	oesophagus
37	chr1:154401800-154407000	Enhancers	NHEK	skin
38	chr1:154401800-154407200	Weak transcription	Pancreas	Pancrea
39	chr1:154402000-154405400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:154402000-154406600	Genic enhancers	Primary monocytes fromperipheralblood	blood
41	chr1:154402200-154403600	Genic enhancers	Colon Smooth Muscle	Colon
42	chr1:154402200-154404000	Enhancers	Duodenum Mucosa	Duodenum
43	chr1:154402200-154404200	Genic enhancers	Stomach Smooth Muscle	stomach
44	chr1:154402200-154404800	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr1:154402200-154405200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:154402200-154406200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:154402200-154406200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:154402200-154406800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:154402200-154407600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr1:154402400-154403800	Strong transcription	Lung	lung

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