Variant report

Variant	rs6947730
Chromosome Location	chr7:100896353-100896354
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr7:100894897-100896380	K562	blood:	n/a	n/a
2	GTF3C2	chr7:100895810-100896490	Hela-S3	cervix:	n/a	n/a
3	RPC155	chr7:100895777-100896502	Hela-S3	cervix:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100858946..100862708-chr7:100892771..100897292,5	MCF-7	breast:
2	chr7:100859477..100861456-chr7:100895747..100897273,2	K562	blood:
3	chr7:100859404..100861068-chr7:100894037..100896793,2	MCF-7	breast:
4	chr7:100807181..100809007-chr7:100895372..100897071,2	K562	blood:
5	chr7:100881101..100885645-chr7:100894081..100896862,4	MCF-7	breast:
6	chr7:100728621..100730334-chr7:100895129..100897710,2	MCF-7	breast:
7	chr7:100486731..100489034-chr7:100894336..100897176,2	MCF-7	breast:
8	chr7:100806299..100808867-chr7:100894642..100897117,2	MCF-7	breast:
9	chr7:100860572..100862632-chr7:100892717..100896862,3	K562	blood:

No data

Variant related genes	Relation type
FIS1	TF binding region
ENSG00000214253	Chromatin interaction
ENSG00000128564	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000106400	Chromatin interaction
ENSG00000106404	Chromatin interaction
ENSG00000106397	Chromatin interaction
ENSG00000169871	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10215699	0.95[EUR][1000 genomes]
rs10230349	0.87[AMR][1000 genomes]
rs10230367	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10241107	0.95[EUR][1000 genomes]
rs10244139	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10252307	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10252506	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10255195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10257072	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10260707	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10260813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10270498	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10273837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10487887	0.95[EUR][1000 genomes]
rs12333955	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334190	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28535695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28582264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28629340	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28673822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28689891	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56099342	0.82[AFR][1000 genomes]
rs56212758	0.82[AFR][1000 genomes]
rs56749963	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57295609	0.82[AFR][1000 genomes]
rs57422827	0.81[AFR][1000 genomes]
rs58341321	0.81[AFR][1000 genomes]
rs59554944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59619028	0.82[AFR][1000 genomes]
rs59937851	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60536711	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60719606	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60774938	0.81[AFR][1000 genomes]
rs61069336	0.81[AFR][1000 genomes]
rs6946705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6946706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6947016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6947521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6957526	0.95[EUR][1000 genomes]
rs6961873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6964812	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6967483	0.95[EUR][1000 genomes]
rs6975417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6979122	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6979308	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6979710	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6979867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73713820	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73713821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73713822	0.93[AFR][1000 genomes]
rs73713824	0.81[AFR][1000 genomes]
rs73713827	0.81[AFR][1000 genomes]
rs7778271	0.91[EUR][1000 genomes]
rs7808669	0.95[EUR][1000 genomes]

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	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv534186	chr7:100773842-100898909	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv464651	chr7:100792810-100971604	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv607974	chr7:100792810-100971604	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	esv2752134	chr7:100800131-101141867	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv831076	chr7:100828847-101011674	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv888819	chr7:100833153-100920007	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	esv2422326	chr7:100833449-101000131	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active 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	37 gene(s)	inside rSNPs	diseases
13	nsv607978	chr7:100861213-100971604	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
14	nsv831077	chr7:100874209-101083930	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:19)

SNP	Gene	Cis/trans	Tissue	Source
rs6947730	CLDN15	cis	multi-tissue	Pritchard
rs6947730	FIS1	cis	Skin Sun Exposed Lower leg	GTEx
rs6947730	FIS1	Cis_1M	lymphoblastoid	RTeQTL
rs6947730	CLDN15	cis	Skin Sun Exposed Lower leg	GTEx
rs6947730	FIS1	cis	Whole Blood	GTEx
rs6947730	FIS1	cis	Adipose Subcutaneous	GTEx
rs6947730	FIS1	cis	Stomach	GTEx
rs6947730	CLDN15	cis	Artery Tibial	GTEx
rs6947730	CLDN15	cis	Esophagus Muscularis	GTEx
rs6947730	FIS1	cis	Thyroid	GTEx
rs6947730	FIS1	cis	Artery Tibial	GTEx
rs6947730	FIS1	cis	Heart Left Ventricle	GTEx
rs6947730	FIS1	cis	lung	GTEx
rs6947730	CLDN15	Cis_1M	lymphoblastoid	RTeQTL
rs6947730	FIS1	cis	Artery Aorta	GTEx
rs6947730	CLDN15	cis	Thyroid	GTEx
rs6947730	FIS1	cis	Esophagus Muscularis	GTEx
rs6947730	FIS1	cis	Esophagus Mucosa	GTEx
rs6947730	CLDN15	cis	Whole Blood	GTEx

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100894000-100896400	Active TSS	K562	blood
2	chr7:100894400-100896400	Active TSS	A549	lung
3	chr7:100894600-100896400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:100894800-100896400	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr7:100894800-100896400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr7:100894800-100896400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:100894800-100896400	Active TSS	Brain Substantia Nigra	brain
8	chr7:100894800-100896400	Active TSS	Colonic Mucosa	Colon
9	chr7:100894800-100896400	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr7:100894800-100896400	Active TSS	Fetal Intestine Large	intestine
11	chr7:100894800-100896400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr7:100894800-100896400	Active TSS	GM12878-XiMat	blood
13	chr7:100894800-100896400	Active TSS	NHDF-Ad	bronchial
14	chr7:100895000-100896400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:100895000-100896400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:100895000-100896400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:100895000-100896400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:100895000-100896400	Active TSS	Brain Angular Gyrus	brain
19	chr7:100895000-100896400	Active TSS	Brain Anterior Caudate	brain
20	chr7:100895000-100896400	Active TSS	Brain Hippocampus Middle	brain
21	chr7:100895000-100896400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:100895000-100896400	Active TSS	Fetal Brain Female	brain
23	chr7:100895000-100896400	Active TSS	Psoas Muscle	Psoas
24	chr7:100895200-100896400	Active TSS	Primary T cells from cord blood	blood
25	chr7:100895200-100896400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr7:100895200-100896400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr7:100895200-100896400	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr7:100895200-100896400	Active TSS	Duodenum Mucosa	Duodenum
29	chr7:100895200-100896400	Active TSS	Rectal Smooth Muscle	rectum
30	chr7:100895200-100896400	Active TSS	Thymus	Thymus
31	chr7:100895400-100896400	Active TSS	Adipose Nuclei	Adipose
32	chr7:100895400-100896400	Active TSS	Stomach Smooth Muscle	stomach
33	chr7:100895600-100896400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:100895600-100896400	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr7:100895600-100896400	Active TSS	HepG2	liver
36	chr7:100895600-100896600	Active TSS	Primary B cells from cord blood	blood
37	chr7:100895800-100896400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr7:100895800-100896400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr7:100895800-100896600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:100896000-100896400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr7:100896000-100896400	Enhancers	Primary hematopoietic stem cells	blood
42	chr7:100896000-100896400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr7:100896000-100896400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr7:100896000-100896400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:100896000-100896400	Enhancers	Stomach Mucosa	stomach
46	chr7:100896000-100896600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:100896000-100896600	Enhancers	Spleen	Spleen
48	chr7:100896000-100907800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:100896200-100896400	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr7:100896200-100896400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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