Variant report

Variant	rs4976702
Chromosome Location	chr5:177018641-177018642
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr5:177018638-177020022	K562	blood:	n/a	n/a
2	HCFC1	chr5:177018457-177020158	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr5:177018634-177019591	GM12878	blood:	n/a	n/a
4	RCOR1	chr5:177018604-177019958	GM12878	blood:	n/a	n/a
5	ZNF143	chr5:177018426-177019895	K562	blood:	n/a	chr5:177019134-177019152
6	IRF1	chr5:177018626-177019432	K562	blood:	n/a	n/a
7	MAX	chr5:177018586-177019497	A549	lung:	n/a	n/a
8	MXI1	chr5:177018324-177020217	SK-N-SH	brain:	n/a	n/a
9	KAP1	chr5:177018476-177019385	U2OS	brain:	n/a	n/a
10	RCOR1	chr5:177018550-177019400	K562	blood:	n/a	n/a
11	RCOR1	chr5:177018640-177019401	Hela-S3	cervix:	n/a	n/a
12	E2F4	chr5:177018352-177019838	MCF10A-Er-Src	breast:	n/a	chr5:177019159-177019169 chr5:177019156-177019166
13	MYC	chr5:177018635-177019857	K562	blood:	n/a	chr5:177019689-177019699
14	SIN3AK20	chr5:177018512-177020045	MCF-7	breast:	n/a	n/a
15	BRCA1	chr5:177018577-177019316	Hela-S3	cervix:	n/a	n/a
16	EP300	chr5:177018624-177019929	K562	blood:	n/a	chr5:177019732-177019741 chr5:177019157-177019166 chr5:177019181-177019197
17	RELA	chr5:177018581-177019685	GM19099	blood:	n/a	n/a
18	TBL1XR1	chr5:177018572-177019393	K562	blood:	n/a	n/a
19	HCFC1	chr5:177018560-177020026	K562	blood:	n/a	n/a
20	RELA	chr5:177018629-177019930	GM15510	blood:	n/a	n/a
21	NFYB	chr5:177018623-177019309	GM12878	blood:	n/a	n/a
22	RELA	chr5:177018617-177019965	GM18951	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:176805970..176807499-chr5:177018005..177019768,2	K562	blood:
2	chr5:176978290..176981747-chr5:177017313..177020640,7	MCF-7	breast:
3	chr5:176943414..176949809-chr5:177018256..177021226,8	MCF-7	breast:
4	chr5:176946312..176949197-chr5:177018379..177020484,2	K562	blood:
5	chr5:176959784..176964247-chr5:177018558..177022874,5	MCF-7	breast:
6	chr5:176923602..176926182-chr5:177017999..177019710,2	K562	blood:
7	chr5:176939485..176941829-chr5:177017923..177020658,4	MCF-7	breast:
8	chr5:176980076..176982423-chr5:177017925..177021146,3	K562	blood:
9	chr5:176922040..176925610-chr5:177017064..177019499,4	K562	blood:
10	chr5:177017384..177019488-chr5:177631001..177633000,2	MCF-7	breast:
11	chr5:177018435..177020960-chr5:177539226..177540753,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMED9	TF binding region
ENSG00000131183	Chromatin interaction
ENSG00000145911	Chromatin interaction
ENSG00000146067	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000196923	Chromatin interaction
ENSG00000272459	Chromatin interaction
ENSG00000183258	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28398967	1.00[EUR][1000 genomes]
rs28449232	1.00[EUR][1000 genomes]
rs4607363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs755873	1.00[EUR][1000 genomes]
rs901378	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
3	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1022630	chr5:176975746-177028082	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv537966	chr5:176975746-177028082	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv883181	chr5:176978496-177034786	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	esv3348457	chr5:176995395-177020808	Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177018600-177018800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:177018600-177018800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:177018600-177018800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:177018600-177018800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr5:177018600-177018800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:177018600-177018800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:177018600-177018800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:177018600-177018800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
9	chr5:177018600-177018800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:177018600-177018800	Bivalent Enhancer	Primary B cells from cord blood	blood
11	chr5:177018600-177018800	Enhancers	Primary B cells from peripheral blood	blood
12	chr5:177018600-177018800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr5:177018600-177018800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr5:177018600-177018800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:177018600-177018800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr5:177018600-177018800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr5:177018600-177018800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr5:177018600-177018800	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr5:177018600-177018800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:177018600-177018800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:177018600-177018800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr5:177018600-177018800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:177018600-177018800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:177018600-177018800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:177018600-177018800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:177018600-177018800	Enhancers	Adipose Nuclei	Adipose
27	chr5:177018600-177018800	Enhancers	Brain Cingulate Gyrus	brain
28	chr5:177018600-177018800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:177018600-177018800	Enhancers	Colonic Mucosa	Colon
30	chr5:177018600-177018800	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr5:177018600-177018800	Enhancers	Esophagus	oesophagus
32	chr5:177018600-177018800	Bivalent/Poised TSS	Fetal Brain Male	brain
33	chr5:177018600-177018800	Flanking Active TSS	Fetal Brain Female	brain
34	chr5:177018600-177018800	Bivalent Enhancer	Fetal Heart	heart
35	chr5:177018600-177018800	Enhancers	Fetal Intestine Small	intestine
36	chr5:177018600-177018800	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr5:177018600-177018800	Enhancers	Placenta	Placenta
38	chr5:177018600-177018800	Bivalent Enhancer	Fetal Thymus	thymus
39	chr5:177018600-177018800	Enhancers	Gastric	stomach
40	chr5:177018600-177018800	Enhancers	Lung	lung
41	chr5:177018600-177018800	Enhancers	Ovary	ovary
42	chr5:177018600-177018800	Enhancers	Pancreas	Pancrea
43	chr5:177018600-177018800	Enhancers	Right Atrium	heart
44	chr5:177018600-177018800	Enhancers	Right Ventricle	heart
45	chr5:177018600-177018800	Flanking Active TSS	A549	lung
46	chr5:177018600-177018800	Flanking Bivalent TSS/Enh	Dnd41	blood
47	chr5:177018600-177018800	Flanking Active TSS	Hela-S3	cervix
48	chr5:177018600-177018800	Enhancers	HepG2	liver
49	chr5:177018600-177018800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
50	chr5:177018600-177018800	Bivalent/Poised TSS	NH-A	brain

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