Variant report

Variant	rs369059874
Chromosome Location	chr7:100080383-100080384
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	ZNF143	chr7:100080340-100081314	K562	blood:	n/a	chr7:100080940-100080950 chr7:100080880-100080898 chr7:100081075-100081093 chr7:100080933-100080951
2	HDAC2	chr7:100080288-100080653	K562	blood:	n/a	n/a
3	RCOR1	chr7:100080345-100081297	K562	blood:	n/a	n/a
4	NR2F2	chr7:100080312-100081374	HepG2	liver:	n/a	chr7:100080792-100080807
5	NR2F2	chr7:100080368-100081182	K562	blood:	n/a	chr7:100080792-100080807
6	CTCF	chr7:100080340-100080490	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr7:100080320-100080470	HMEC	breast:	n/a	n/a
8	CBX3	chr7:100080277-100081151	K562	blood:	n/a	n/a
9	MAX	chr7:100080317-100081757	MCF-7	breast:	n/a	chr7:100081185-100081194
10	CTCF	chr7:100080167-100082239	SK-N-SH	brain:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100081963-100081972 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100082002-100082012 chr7:100080934-100080947 chr7:100080931-100080944
11	CTCF	chr7:100080193-100081477	A549	lung:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
12	POLR2A	chr7:100080255-100080388	HepG2	liver:	n/a	n/a
13	MAX	chr7:100080283-100081703	K562	blood:	n/a	chr7:100081185-100081194
14	MAX	chr7:100080308-100081782	HepG2	liver:	n/a	chr7:100081185-100081194

No.	Distal block	Cell Line	Cell type
1	chr7:100080109..100082832-chr7:100180830..100183809,4	MCF-7	breast:
2	chr20:45925390..45926255-chr7:100080190..100081125,2	MCF-7	breast:
3	chr7:100080256..100081975-chr7:100135714..100137947,2	MCF-7	breast:
4	chr7:100078512..100081448-chr7:100177451..100180424,2	MCF-7	breast:
5	chr7:100073820..100078843-chr7:100079329..100083762,6	MCF-7	breast:
6	chr7:100074425..100078694-chr7:100079448..100083758,11	K562	blood:
7	chr7:100032559..100034120-chr7:100079176..100081080,2	K562	blood:
8	chr7:100024700..100032514-chr7:100067180..100083143,31	K562	blood:
9	chr7:100022010..100030260-chr7:100068697..100082544,31	K562	blood:
10	chr7:100079431..100084153-chr7:100084209..100089579,10	K562	blood:
11	chr7:100080163..100084843-chr7:100085212..100090254,7	MCF-7	breast:

Variant related genes	Relation type
TSC22D4	TF binding region
NYAP1	TF binding region
ENSG00000078487	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000166925	Chromatin interaction
ENSG00000106351	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000241357	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
4	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
5	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
6	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
7	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
8	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv527050	chr7:100056166-100125975	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv888781	chr7:100060928-100097895	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
12	nsv888783	chr7:100073292-100136241	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv888784	chr7:100076614-100097895	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	esv3375220	chr7:100080241-100082789	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100076800-100080400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:100077000-100080400	Weak transcription	Spleen	Spleen
3	chr7:100077200-100080400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:100077200-100080600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:100077400-100080400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:100077400-100080400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:100077400-100080400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:100077400-100080400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:100077400-100080400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:100077400-100080400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:100077400-100080400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:100077400-100080400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:100077400-100080400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr7:100077400-100080400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:100077400-100080400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:100077400-100080400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:100077400-100080400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:100077400-100080400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:100077400-100080400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:100077400-100080400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:100077400-100080400	Weak transcription	Fetal Kidney	kidney
22	chr7:100077400-100080400	Weak transcription	Gastric	stomach
23	chr7:100077400-100080400	Weak transcription	Left Ventricle	heart
24	chr7:100077400-100080400	Weak transcription	Lung	lung
25	chr7:100077400-100080400	Weak transcription	Pancreas	Pancrea
26	chr7:100077400-100080400	Weak transcription	Psoas Muscle	Psoas
27	chr7:100077400-100080400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:100077400-100080400	Weak transcription	Right Atrium	heart
29	chr7:100077400-100080400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:100077400-100080400	Weak transcription	Small Intestine	intestine
31	chr7:100077400-100080400	Weak transcription	HMEC	breast
32	chr7:100077400-100080400	Weak transcription	HSMM	muscle
33	chr7:100077400-100080400	Weak transcription	HUVEC	blood vessel
34	chr7:100077400-100080400	Weak transcription	NH-A	brain
35	chr7:100077400-100080400	Weak transcription	NHDF-Ad	bronchial
36	chr7:100077400-100080400	Weak transcription	NHEK	skin
37	chr7:100077400-100080400	Weak transcription	NHLF	lung
38	chr7:100077400-100080400	Weak transcription	Osteobl	bone
39	chr7:100077400-100080600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:100077400-100080600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:100077400-100080600	Weak transcription	Aorta	Aorta
42	chr7:100077600-100080400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:100077600-100080400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:100077600-100080400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:100077600-100080400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr7:100077600-100080400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr7:100077600-100080400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:100077600-100080400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:100077600-100080400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:100077600-100080400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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