Variant report

Variant	rs11970888
Chromosome Location	chr7:100209284-100209285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:100209263-100210451	K562	blood:	n/a	n/a
2	REST	chr7:100209154-100210768	H1-neurons	neurons:	n/a	chr7:100210060-100210073
3	SIN3AK20	chr7:100209282-100210333	MCF-7	breast:	n/a	n/a
4	POLR2A	chr7:100209276-100210513	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:100209192-100210483	SK-N-MC	brain:	n/a	n/a
6	TCF12	chr7:100209169-100210207	A549	lung:	n/a	chr7:100209506-100209514
7	GTF3C2	chr7:100209127-100210048	K562	blood:	n/a	n/a
8	GTF3C2	chr7:100209150-100209651	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr7:100209276-100210394	GM12892	blood:	n/a	n/a
10	FOSL2	chr7:100209282-100209890	A549	lung:	n/a	n/a
11	POLR2A	chr7:100208862-100210552	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:100209280-100210478	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr7:100209274-100210384	U87	brain:	n/a	n/a
14	RFX5	chr7:100209267-100210384	IMR90	lung:	n/a	n/a
15	RFX5	chr7:100209172-100211247	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr7:100209268-100210422	SK-N-SH	brain:	n/a	n/a

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100208313..100211642-chr7:100274412..100277175,3	MCF-7	breast:
2	chr7:100208281..100211057-chr7:100227699..100229748,2	K562	blood:
3	chr7:100208537..100210261-chr7:100463099..100465535,2	MCF-7	breast:
4	chr7:100199763..100200426-chr7:100209123..100210066,2	K562	blood:
5	chr7:100208330..100211092-chr7:100239329..100241095,2	MCF-7	breast:
6	chr7:100208130..100210288-chr7:100223518..100226835,3	MCF-7	breast:
7	chr7:100208465..100211590-chr7:100485559..100488810,4	MCF-7	breast:
8	chr7:100207856..100214217-chr7:100235772..100240956,9	K562	blood:
9	chr7:100025028..100029218-chr7:100206824..100213289,7	K562	blood:
10	chr7:100207401..100210043-chr7:100303952..100305930,2	K562	blood:
11	chr7:100207665..100209590-chr7:100282834..100284760,2	K562	blood:
12	chr7:100206101..100213131-chr7:100214394..100226559,23	K562	blood:
13	chr7:100208147..100211165-chr7:100422696..100426389,3	MCF-7	breast:
14	chr7:100025645..100028263-chr7:100208101..100209907,2	K562	blood:
15	chr7:100208530..100211610-chr7:100269581..100272676,5	K562	blood:
16	chr7:100208147..100211505-chr7:100280175..100284290,3	MCF-7	breast:
17	chr7:100183793..100184708-chr7:100209218..100210071,2	K562	blood:
18	chr7:100207807..100212872-chr7:100269575..100273736,11	MCF-7	breast:
19	chr7:100208069..100211610-chr7:100269776..100275197,5	K562	blood:
20	chr7:100024499..100027894-chr7:100208680..100211740,5	MCF-7	breast:
21	chr7:100207856..100215304-chr7:100235701..100242038,10	K562	blood:
22	chr7:100208328..100213557-chr7:100269728..100273649,8	MCF-7	breast:
23	chr7:100182175..100185247-chr7:100208524..100211802,7	K562	blood:
24	chr7:100199287..100203860-chr7:100204915..100211773,14	MCF-7	breast:
25	chr4:178230369..178231317-chr7:100209277..100209843,2	NB4	blood:
26	chr7:100180934..100186212-chr7:100208003..100211666,10	K562	blood:
27	chr7:100181910..100186072-chr7:100207984..100213440,10	MCF-7	breast:

No data

Variant related genes	Relation type
MOSPD3	TF binding region
ENSG00000146828	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000146830	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000224729	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000109674	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000087077	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000146834	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3197597	1.00[AFR][1000 genomes]
rs62482222	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
8	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv5868	chr7:100169998-100214646	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	59 gene(s)	inside rSNPs	diseases
10	nsv888790	chr7:100200674-100232387	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11970888	MOSPD3	cis	Whole Blood	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100203200-100209400	Weak transcription	Fetal Lung	lung
2	chr7:100203600-100209400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:100203800-100209400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:100203800-100209400	Weak transcription	Left Ventricle	heart
5	chr7:100203800-100209800	Weak transcription	Spleen	Spleen
6	chr7:100204000-100209400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:100204000-100209400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:100204000-100209400	Weak transcription	Ovary	ovary
9	chr7:100204200-100209400	Weak transcription	Right Ventricle	heart
10	chr7:100204400-100209400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:100205400-100209800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:100206000-100209600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:100206200-100209600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:100208000-100209400	Weak transcription	HUVEC	blood vessel
15	chr7:100208200-100210200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:100208600-100210800	Active TSS	Fetal Brain Female	brain
17	chr7:100208800-100209400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:100208800-100210200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:100208800-100210400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr7:100208800-100210400	Active TSS	Duodenum Mucosa	Duodenum
21	chr7:100208800-100210600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:100209000-100209400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:100209000-100209400	Enhancers	Pancreas	Pancrea
24	chr7:100209000-100209400	Enhancers	Psoas Muscle	Psoas
25	chr7:100209000-100210200	Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr7:100209000-100210200	Active TSS	Brain Germinal Matrix	brain
27	chr7:100209000-100210400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:100209000-100210400	Active TSS	Colonic Mucosa	Colon
29	chr7:100209000-100210400	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr7:100209000-100210600	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr7:100209000-100210600	Active TSS	Brain Angular Gyrus	brain
32	chr7:100209000-100210600	Active TSS	GM12878-XiMat	blood
33	chr7:100209000-100210800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:100209000-100211000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:100209000-100211000	Active TSS	Rectal Smooth Muscle	rectum
36	chr7:100209200-100209400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:100209200-100209400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr7:100209200-100209400	Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr7:100209200-100209400	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr7:100209200-100209400	Flanking Active TSS	Fetal Stomach	stomach
41	chr7:100209200-100209600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:100209200-100209600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr7:100209200-100209600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr7:100209200-100209600	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr7:100209200-100209600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr7:100209200-100209600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr7:100209200-100209600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:100209200-100209600	Flanking Active TSS	Fetal Thymus	thymus
49	chr7:100209200-100209600	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr7:100209200-100209600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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