Variant report

Variant	rs59528184
Chromosome Location	chr7:99757200-99757201
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:99754400-99757236	SK-N-SH	brain:	n/a	n/a
2	TBP	chr7:99756175-99757215	K562	blood:	n/a	n/a
3	RPC155	chr7:99756289-99757576	K562	blood:	n/a	n/a
4	YY1	chr7:99756874-99757201	K562	blood:	n/a	n/a
5	CTCF	chr7:99757100-99757250	GM12871	blood:	n/a	n/a
6	GTF3C2	chr7:99756188-99757459	K562	blood:	n/a	n/a
7	GTF3C2	chr7:99756427-99757336	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr7:99749910-99757285	SK-N-MC	brain:	n/a	n/a
9	NR2F2	chr7:99754160-99757357	K562	blood:	n/a	n/a
10	POLR2A	chr7:99755821-99757254	H1-neurons	neurons:	n/a	n/a
11	CTCF	chr7:99757060-99757210	WI-38	lung:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:2906493..2908640-chr7:99756107..99758046,2	MCF-7	breast:
2	chr7:99756435..99758861-chr7:99763048..99766609,5	K562	blood:
3	chr7:99696160..99700887-chr7:99753963..99757907,5	K562	blood:
4	chr7:99752857..99757651-chr7:99763240..99770051,14	MCF-7	breast:
5	chr7:99754180..99757947-chr7:99773944..99778293,5	K562	blood:
6	chr7:99697813..99699530-chr7:99754761..99757399,3	MCF-7	breast:
7	chr7:99696142..99700081-chr7:99754300..99760427,7	MCF-7	breast:
8	chr7:99726058..99730231-chr7:99754511..99757895,5	MCF-7	breast:
9	chr7:99751463..99761050-chr7:99772463..99778676,10	K562	blood:
10	chr7:99724063..99726491-chr7:99755814..99759003,3	K562	blood:
11	chr7:99754473..99757305-chr7:99763282..99766035,2	MCF-7	breast:
12	chr7:99756236..99758894-chr7:100025899..100028598,2	K562	blood:
13	chr7:99696160..99699295-chr7:99753963..99757907,4	K562	blood:
14	chr7:99753966..99755669-chr7:99756075..99758782,2	MCF-7	breast:
15	chr6:150037573..150039874-chr7:99755624..99757771,2	MCF-7	breast:
16	chr7:99755258..99758996-chr7:99773394..99775783,3	MCF-7	breast:

No data

Variant related genes	Relation type
C7orf43	TF binding region
MIR4658	TF binding region
ENSG00000146834	Chromatin interaction
ENSG00000221838	Chromatin interaction
ENSG00000242798	Chromatin interaction
ENSG00000213420	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000214309	Chromatin interaction
ENSG00000131023	Chromatin interaction
ENSG00000166508	Chromatin interaction
ENSG00000066923	Chromatin interaction
ENSG00000146826	Chromatin interaction
ENSG00000266154	Chromatin interaction
ENSG00000197093	Chromatin interaction
ENSG00000263325	Chromatin interaction
ENSG00000005001	Chromatin interaction
ENSG00000235077	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12668498	1.00[AFR][1000 genomes]
rs4134893	1.00[AFR][1000 genomes]
rs58244784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58607512	1.00[AFR][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	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
2	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases
3	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
4	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
5	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
6	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv888773	chr7:99751594-99772298	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99755600-99757200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:99755600-99757200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:99755600-99758400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:99755800-99757200	Active TSS	Brain Germinal Matrix	brain
5	chr7:99755800-99757200	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr7:99756400-99757200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:99756400-99757200	Flanking Active TSS	Dnd41	blood
8	chr7:99756600-99757200	Flanking Active TSS	Hela-S3	cervix
9	chr7:99756600-99760400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:99756600-99764200	Weak transcription	Spleen	Spleen
11	chr7:99756800-99757200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:99756800-99757200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:99756800-99757200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:99756800-99757200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:99756800-99757200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:99756800-99757200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr7:99756800-99757200	Enhancers	Primary B cells from peripheral blood	blood
18	chr7:99756800-99757200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:99756800-99757200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:99756800-99757200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:99756800-99757200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr7:99756800-99757200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:99756800-99757200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:99756800-99757200	Enhancers	Duodenum Mucosa	Duodenum
25	chr7:99756800-99757200	Enhancers	Esophagus	oesophagus
26	chr7:99756800-99757200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr7:99756800-99757200	Enhancers	Fetal Muscle Trunk	muscle
28	chr7:99756800-99757200	Genic enhancers	Fetal Thymus	thymus
29	chr7:99756800-99757200	Enhancers	Thymus	Thymus
30	chr7:99756800-99758000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr7:99756800-99758200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:99756800-99758200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:99756800-99758600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr7:99756800-99758600	Enhancers	Placenta	Placenta
35	chr7:99756800-99760600	Weak transcription	Colonic Mucosa	Colon
36	chr7:99756800-99760600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:99756800-99760800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:99756800-99764200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:99756800-99765200	Weak transcription	Right Atrium	heart
40	chr7:99756800-99765400	Weak transcription	Pancreas	Pancrea
41	chr7:99757000-99757200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:99757000-99757200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr7:99757000-99757200	Enhancers	Primary T cells from cord blood	blood
44	chr7:99757000-99757200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr7:99757000-99757200	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr7:99757000-99757200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr7:99757000-99757200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr7:99757000-99757200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:99757000-99757200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr7:99757000-99757200	Enhancers	Cortex derived primary cultured neurospheres	brain

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