Variant report

Variant	rs112167005
Chromosome Location	chr5:177019993-177019994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 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	POLR2A	chr5:177018783-177020003	GM12891	blood:	n/a	n/a
4	SIN3A	chr5:177018880-177020000	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAZ	chr5:177018947-177020003	GM12878	blood:	n/a	chr5:177019689-177019699
6	RELA	chr5:177018670-177020016	GM10847	blood:	n/a	n/a
7	CHD1	chr5:177018912-177019998	GM12878	blood:	n/a	n/a
8	MXI1	chr5:177018324-177020217	SK-N-SH	brain:	n/a	n/a
9	ZC3H11A	chr5:177018885-177020028	K562	blood:	n/a	n/a
10	MXI1	chr5:177018808-177020356	IMR90	lung:	n/a	n/a
11	SIN3AK20	chr5:177018512-177020045	MCF-7	breast:	n/a	n/a
12	CUX1	chr5:177018909-177020033	GM12878	blood:	n/a	n/a
13	HCFC1	chr5:177018560-177020026	K562	blood:	n/a	n/a
14	MXI1	chr5:177018731-177020019	GM12878	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:176978290..176981747-chr5:177017313..177020640,7	MCF-7	breast:
2	chr5:176943414..176949809-chr5:177018256..177021226,8	MCF-7	breast:
3	chr5:176946312..176949197-chr5:177018379..177020484,2	K562	blood:
4	chr5:176979031..176980967-chr5:177019678..177022578,2	MCF-7	breast:
5	chr5:176959784..176964247-chr5:177018558..177022874,5	MCF-7	breast:
6	chr5:176939485..176941829-chr5:177017923..177020658,4	MCF-7	breast:
7	chr12:32112363..32113149-chr5:177019226..177020019,2	NB4	blood:
8	chr5:176923095..176925209-chr5:177019148..177022259,3	MCF-7	breast:
9	chr5:177019232..177020994-chr5:177656791..177659399,2	K562	blood:
10	chr5:176942293..176944420-chr5:177019101..177021147,2	MCF-7	breast:
11	chr5:176980076..176982423-chr5:177017925..177021146,3	K562	blood:
12	chr5:176936816..176938708-chr5:177019651..177022498,2	MCF-7	breast:
13	chr5:176951222..176953772-chr5:177019144..177020770,2	MCF-7	breast:
14	chr5:177018435..177020960-chr5:177539226..177540753,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMED9	TF binding region
ENSG00000196923	Chromatin interaction
ENSG00000146067	Chromatin interaction
ENSG00000146094	Chromatin interaction
ENSG00000174718	Chromatin interaction
ENSG00000175309	Chromatin interaction
ENSG00000145911	Chromatin interaction
ENSG00000272459	Chromatin interaction
ENSG00000183258	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv883183	chr5:177019379-177030351	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177018600-177020000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:177018600-177020000	Active TSS	Fetal Lung	lung
3	chr5:177018600-177020200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr5:177018600-177020200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr5:177018600-177020200	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr5:177018600-177020200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:177018600-177020200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:177018600-177020200	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr5:177018600-177020400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr5:177018600-177020400	Active TSS	Rectal Smooth Muscle	rectum
11	chr5:177018600-177020400	Active TSS	HSMMtube	muscle
12	chr5:177018600-177020600	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr5:177018800-177020000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr5:177018800-177020000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:177018800-177020000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:177018800-177020000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:177018800-177020000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:177018800-177020000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:177018800-177020000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:177018800-177020000	Active TSS	Brain Cingulate Gyrus	brain
21	chr5:177018800-177020000	Active TSS	Colonic Mucosa	Colon
22	chr5:177018800-177020000	Active TSS	Placenta	Placenta
23	chr5:177018800-177020000	Active TSS	Lung	lung
24	chr5:177018800-177020000	Active TSS	Ovary	ovary
25	chr5:177018800-177020000	Active TSS	Psoas Muscle	Psoas
26	chr5:177018800-177020000	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr5:177018800-177020200	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr5:177018800-177020200	Active TSS	H1 Cell Line	embryonic stem cell
29	chr5:177018800-177020200	Active TSS	H9 Cell Line	embryonic stem cell
30	chr5:177018800-177020200	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr5:177018800-177020200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:177018800-177020200	Active TSS	Aorta	Aorta
33	chr5:177018800-177020200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:177018800-177020200	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr5:177018800-177020200	Active TSS	Right Atrium	heart
36	chr5:177018800-177020200	Active TSS	Right Ventricle	heart
37	chr5:177018800-177020200	Active TSS	A549	lung
38	chr5:177018800-177020200	Active TSS	Hela-S3	cervix
39	chr5:177018800-177020200	Active TSS	HMEC	breast
40	chr5:177018800-177020400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:177018800-177020400	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr5:177018800-177020400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:177018800-177020400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:177018800-177020400	Active TSS	NH-A	brain
45	chr5:177018800-177020400	Active TSS	NHLF	lung
46	chr5:177018800-177020600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:177019000-177020000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:177019000-177020000	Active TSS	Muscle Satellite Cultured Cells	--
49	chr5:177019000-177020000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr5:177019000-177020000	Active TSS	Fetal Intestine Small	intestine

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