Variant report

Variant	rs10487887
Chromosome Location	chr7:100862209-100862210
allele	C/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	MXI1	chr7:100859501-100862549	IMR90	lung:	n/a	chr7:100861332-100861347
2	POLR2A	chr7:100859817-100863220	HepG2	liver:	n/a	n/a
3	MAX	chr7:100861982-100862353	K562	blood:	n/a	n/a
4	PAX5	chr7:100862083-100862306	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:100860500-100862342	HepG2	liver:	n/a	n/a
6	GABPA	chr7:100860198-100862232	MCF-7	breast:	n/a	chr7:100861371-100861385 chr7:100861432-100861446 chr7:100861371-100861382 chr7:100861435-100861446 chr7:100861437-100861446
7	E2F4	chr7:100861894-100862293	MCF10A-Er-Src	breast:	n/a	n/a
8	BHLHE40	chr7:100862039-100862369	K562	blood:	n/a	n/a
9	NR2F2	chr7:100859676-100862425	K562	blood:	n/a	n/a
10	GABPA	chr7:100860338-100862234	MCF-7	breast:	n/a	chr7:100861371-100861385 chr7:100861432-100861446 chr7:100861371-100861382 chr7:100861435-100861446 chr7:100861437-100861446
11	BHLHE40	chr7:100862160-100862280	HepG2	liver:	n/a	n/a
12	HCFC1	chr7:100859922-100862550	Hela-S3	cervix:	n/a	n/a
13	BHLHE40	chr7:100862039-100862368	GM12878	blood:	n/a	n/a
14	MXI1	chr7:100859033-100862531	SK-N-SH	brain:	n/a	chr7:100861332-100861347

No.	Distal block	Cell Line	Cell type
1	chr7:100859700..100862927-chr7:100863052..100866687,4	MCF-7	breast:
2	chr7:100730924..100734717-chr7:100859526..100862672,3	MCF-7	breast:
3	chr7:100859374..100863045-chr7:100885733..100890781,8	K562	blood:
4	chr7:100859513..100863025-chr7:100885730..100890155,10	MCF-7	breast:
5	chr7:100858946..100862708-chr7:100892771..100897292,5	MCF-7	breast:
6	chr7:100808076..100812812-chr7:100858488..100864832,8	MCF-7	breast:
7	chr7:100860572..100862632-chr7:100892717..100896862,3	K562	blood:
8	chr7:100859409..100862433-chr7:100893851..100895703,4	K562	blood:
9	chr7:100486477..100489401-chr7:100859928..100862607,2	MCF-7	breast:
10	chr7:100491458..100494589-chr7:100859109..100862606,4	MCF-7	breast:
11	chr7:100859877..100865511-chr7:100878168..100882490,7	MCF-7	breast:
12	chr7:100853413..100857189-chr7:100859048..100862216,5	K562	blood:
13	chr7:100796560..100798875-chr7:100861007..100862748,2	MCF-7	breast:
14	chr7:100858478..100862757-chr7:100884994..100890276,15	MCF-7	breast:
15	chr7:100853184..100857478-chr7:100859517..100863375,8	MCF-7	breast:
16	chr7:100859400..100864017-chr7:100886115..100890578,15	K562	blood:
17	chr7:100807333..100809689-chr7:100860017..100862230,2	K562	blood:
18	chr7:100850699..100858131-chr7:100858977..100863722,10	K562	blood:

Variant related genes	Relation type
PLOD3	TF binding region
ZNHIT1	TF binding region
ENSG00000214253	Chromatin interaction
ENSG00000106400	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000169871	Chromatin interaction
ENSG00000087085	Chromatin interaction
ENSG00000106367	Chromatin interaction
ENSG00000106397	Chromatin interaction
ENSG00000128564	Chromatin interaction
ENSG00000106404	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10215699	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10230367	0.86[EUR][1000 genomes]
rs10241107	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10252307	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10254892	0.86[EUR][1000 genomes]
rs10255195	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10257072	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10260707	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10260813	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10265206	0.86[CEU][hapmap]
rs10270498	0.81[EUR][1000 genomes]
rs10273837	0.86[EUR][1000 genomes]
rs11546151	0.88[ASN][1000 genomes]
rs11971003	0.88[ASN][1000 genomes]
rs11973058	0.88[ASN][1000 genomes]
rs11973909	0.88[ASN][1000 genomes]
rs11975104	0.90[ASN][1000 genomes]
rs11975752	0.86[ASN][1000 genomes]
rs11977763	0.88[ASN][1000 genomes]
rs12333955	0.95[EUR][1000 genomes]
rs12334190	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1546840	0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs1546841	0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs1546842	0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs1811203	0.90[ASN][1000 genomes]
rs1811204	0.90[ASN][1000 genomes]
rs1972170	0.88[ASN][1000 genomes]
rs2107803	0.90[ASN][1000 genomes]
rs2286120	0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs2301904	0.90[ASN][1000 genomes]
rs28535695	0.86[EUR][1000 genomes]
rs28582264	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs28629340	0.86[EUR][1000 genomes]
rs28673822	0.84[EUR][1000 genomes]
rs28689891	0.86[EUR][1000 genomes]
rs3779113	0.88[ASN][1000 genomes]
rs3779114	0.88[ASN][1000 genomes]
rs56749963	0.95[EUR][1000 genomes]
rs59554944	0.95[EUR][1000 genomes]
rs59937851	1.00[EUR][1000 genomes]
rs60536711	0.95[EUR][1000 genomes]
rs60719606	0.95[EUR][1000 genomes]
rs6946705	0.95[EUR][1000 genomes]
rs6946706	0.95[EUR][1000 genomes]
rs6947016	0.95[EUR][1000 genomes]
rs6947521	0.95[EUR][1000 genomes]
rs6947730	0.95[EUR][1000 genomes]
rs6957526	1.00[EUR][1000 genomes]
rs6961873	0.95[EUR][1000 genomes]
rs6964812	1.00[EUR][1000 genomes]
rs6967483	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs6975417	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6979122	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6979308	0.95[EUR][1000 genomes]
rs6979710	0.95[EUR][1000 genomes]
rs6979867	0.95[EUR][1000 genomes]
rs73713820	0.86[EUR][1000 genomes]
rs73713821	0.86[EUR][1000 genomes]
rs7778271	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7808669	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs917112	0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs926156	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	nsv1018841	chr7:100760410-100868299	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	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
7	nsv607973	chr7:100782460-100873835	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv888816	chr7:100792810-100862264	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	nsv607975	chr7:100804140-100873835	Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	nsv464652	chr7:100804140-100881640	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv607976	chr7:100804140-100881640	Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS 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	30 gene(s)	inside rSNPs	diseases
16	nsv888817	chr7:100804140-100881640	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	nsv607977	chr7:100818846-100881640	Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
18	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
19	nsv888818	chr7:100833153-100895480	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
20	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
21	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
22	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

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs10487887	FIS1	cis	Artery Tibial	GTEx
rs10487887	CLDN15	cis	multi-tissue	Pritchard
rs10487887	CLDN15	Cis_1M	lymphoblastoid	RTeQTL
rs10487887	CLDN15	cis	Artery Tibial	GTEx
rs10487887	CLDN15	cis	Thyroid	GTEx
rs10487887	FIS1	cis	Esophagus Mucosa	GTEx
rs10487887	FIS1	Cis_1M	lymphoblastoid	RTeQTL
rs10487887	FIS1	cis	Esophagus Muscularis	GTEx
rs10487887	FIS1	cis	Skin Sun Exposed Lower leg	GTEx
rs10487887	FIS1	cis	Adipose Subcutaneous	GTEx
rs10487887	FIS1	cis	Thyroid	GTEx
rs10487887	FIS1	cis	lung	GTEx
rs10487887	CLDN15	cis	Skin Sun Exposed Lower leg	GTEx
rs10487887	FIS1	cis	Whole Blood	GTEx
rs10487887	FIS1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100859400-100862600	Active TSS	HSMM	muscle
2	chr7:100859600-100862400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr7:100859600-100862400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:100859600-100862400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:100859600-100862600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:100859800-100862400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:100859800-100862400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr7:100859800-100862600	Active TSS	HSMMtube	muscle
9	chr7:100860000-100862400	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr7:100860000-100862400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:100860000-100862400	Active TSS	Aorta	Aorta
12	chr7:100860000-100862400	Bivalent/Poised TSS	HepG2	liver
13	chr7:100860000-100862400	Active TSS	NHLF	lung
14	chr7:100860000-100862600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:100860200-100862400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr7:100860200-100862400	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr7:100860200-100862400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:100860200-100863400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:100860400-100862400	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr7:100860400-100862400	Active TSS	Ovary	ovary
21	chr7:100860400-100862600	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr7:100861000-100862600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr7:100861200-100863600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:100861400-100862600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:100861600-100862400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr7:100861600-100862400	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr7:100861600-100862400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr7:100861600-100862400	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr7:100861600-100862400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr7:100861600-100862400	Flanking Active TSS	Fetal Stomach	stomach
31	chr7:100861600-100862600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr7:100861600-100862600	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr7:100861600-100862600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr7:100861800-100862400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr7:100861800-100862400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr7:100861800-100862400	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr7:100861800-100862400	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr7:100861800-100862400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr7:100861800-100862400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:100861800-100862400	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr7:100861800-100862400	Flanking Active TSS	Fetal Brain Male	brain
42	chr7:100861800-100862400	Flanking Active TSS	Fetal Lung	lung
43	chr7:100861800-100862400	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr7:100861800-100862400	Flanking Active TSS	Left Ventricle	heart
45	chr7:100861800-100862400	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr7:100861800-100862400	Flanking Active TSS	Thymus	Thymus
47	chr7:100861800-100862400	Flanking Active TSS	HUVEC	blood vessel
48	chr7:100861800-100862600	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr7:100861800-100862600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr7:100861800-100862600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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