Variant report

Variant	rs10260707
Chromosome Location	chr7:100863945-100863946
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr7:100863674-100864041	HepG2	liver:	n/a	n/a
2	MAX	chr7:100863756-100863956	HepG2	liver:	n/a	n/a
3	FOXA1	chr7:100863667-100863953	HepG2	liver:	n/a	n/a
4	CEBPB	chr7:100863600-100863979	HepG2	liver:	n/a	n/a
5	TEAD4	chr7:100863501-100864044	HepG2	liver:	n/a	n/a
6	MYBL2	chr7:100863515-100864037	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:100863903-100864128	HepG2	liver:	n/a	n/a
8	MAX	chr7:100863526-100864096	HepG2	liver:	n/a	n/a
9	HDAC2	chr7:100863557-100864010	HepG2	liver:	n/a	n/a
10	JUND	chr7:100863659-100863963	HepG2	liver:	n/a	n/a
11	USF2	chr7:100863745-100863963	HepG2	liver:	n/a	n/a
12	CEBPB	chr7:100863605-100864017	HepG2	liver:	n/a	n/a
13	EP300	chr7:100863537-100864037	HepG2	liver:	n/a	n/a
14	SP1	chr7:100863538-100863975	HepG2	liver:	n/a	n/a
15	HNF4A	chr7:100863595-100863948	HepG2	liver:	n/a	chr7:100863763-100863778
16	ARID3A	chr7:100863590-100864022	HepG2	liver:	n/a	n/a
17	BHLHE40	chr7:100863711-100863976	HepG2	liver:	n/a	n/a
18	HNF4G	chr7:100863515-100863985	HepG2	liver:	n/a	chr7:100863764-100863779
19	MAX	chr7:100863761-100863988	K562	blood:	n/a	n/a
20	HNF4G	chr7:100863577-100863978	HepG2	liver:	n/a	chr7:100863764-100863779
21	USF1	chr7:100863755-100863953	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100859700..100862927-chr7:100863052..100866687,4	MCF-7	breast:
2	chr7:100863090..100866963-chr7:100885534..100889185,4	MCF-7	breast:
3	chr7:100808076..100812812-chr7:100858488..100864832,8	MCF-7	breast:
4	chr7:100863732..100865673-chr7:100872305..100875910,3	K562	blood:
5	chr7:100859877..100865511-chr7:100878168..100882490,7	MCF-7	breast:
6	chr7:100859400..100864017-chr7:100886115..100890578,15	K562	blood:

No data

Variant related genes	Relation type
PLOD3	TF binding region
ENSG00000128564	Chromatin interaction
ENSG00000106404	Chromatin interaction
ENSG00000106397	Chromatin interaction
ENSG00000106400	Chromatin interaction
ENSG00000214253	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10215699	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10230367	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10241107	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10244139	0.87[AMR][1000 genomes]
rs10252307	1.00[CEU][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10252506	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10254892	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10255195	1.00[CEU][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10257072	1.00[CEU][hapmap];0.89[YRI][hapmap];0.95[EUR][1000 genomes]
rs10260813	1.00[CEU][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10265206	0.82[CEU][hapmap]
rs10270498	0.81[EUR][1000 genomes]
rs10273837	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10487887	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12333955	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12334190	1.00[CEU][hapmap];0.93[YRI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28535695	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28582264	1.00[CEU][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28629340	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28673822	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28689891	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56749963	0.95[EUR][1000 genomes]
rs59554944	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59937851	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60536711	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60719606	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6946705	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6946706	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6947016	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6947521	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6947730	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6957526	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6961873	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6964812	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6967483	0.82[CEU][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6975417	1.00[CEU][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6979122	1.00[CEU][hapmap];0.86[YRI][hapmap];0.95[EUR][1000 genomes]
rs6979308	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6979710	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6979867	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73713820	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73713821	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7778271	1.00[CEU][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7808669	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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:19)

SNP	Gene	Cis/trans	Tissue	Source
rs10260707	FIS1	cis	Adipose Subcutaneous	GTEx
rs10260707	FIS1	cis	Artery Tibial	GTEx
rs10260707	FIS1	cis	lung	GTEx
rs10260707	FIS1	cis	Thyroid	GTEx
rs10260707	CLDN15	cis	Whole Blood	GTEx
rs10260707	CLDN15	cis	Esophagus Muscularis	GTEx
rs10260707	FIS1	cis	Artery Aorta	GTEx
rs10260707	FIS1	cis	Esophagus Mucosa	GTEx
rs10260707	FIS1	cis	Skin Sun Exposed Lower leg	GTEx
rs10260707	CLDN15	cis	multi-tissue	Pritchard
rs10260707	FIS1	cis	Heart Left Ventricle	GTEx
rs10260707	FIS1	Cis_1M	lymphoblastoid	RTeQTL
rs10260707	CLDN15	cis	Thyroid	GTEx
rs10260707	CLDN15	cis	Artery Tibial	GTEx
rs10260707	FIS1	cis	Whole Blood	GTEx
rs10260707	FIS1	cis	Esophagus Muscularis	GTEx
rs10260707	CLDN15	cis	Skin Sun Exposed Lower leg	GTEx
rs10260707	FIS1	cis	Stomach	GTEx
rs10260707	CLDN15	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100862200-100864000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr7:100862200-100864000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:100862200-100864000	Enhancers	Fetal Heart	heart
4	chr7:100862200-100864000	Enhancers	Gastric	stomach
5	chr7:100862200-100864600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:100862200-100864800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:100862200-100865000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:100862200-100865000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:100862200-100865400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:100862200-100866800	Weak transcription	Small Intestine	intestine
11	chr7:100862200-100875200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:100862400-100864000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:100862400-100864000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr7:100862400-100864000	Enhancers	Brain Cingulate Gyrus	brain
15	chr7:100862400-100864000	Enhancers	Brain Hippocampus Middle	brain
16	chr7:100862400-100864000	Enhancers	Stomach Mucosa	stomach
17	chr7:100862400-100864400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr7:100862400-100865000	Weak transcription	A549	lung
19	chr7:100862400-100865200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:100862400-100865200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:100862400-100866000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:100862400-100866000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:100862400-100866000	Weak transcription	Fetal Lung	lung
24	chr7:100862400-100866000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:100862400-100866800	Weak transcription	NHDF-Ad	bronchial
26	chr7:100862400-100867000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:100862400-100867000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:100862400-100867200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:100862400-100867800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr7:100862400-100868200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:100862400-100874400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr7:100862400-100875400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:100862400-100887000	Weak transcription	Fetal Kidney	kidney
34	chr7:100862600-100864000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr7:100862600-100864000	Enhancers	Colon Smooth Muscle	Colon
36	chr7:100862600-100864000	Enhancers	Duodenum Mucosa	Duodenum
37	chr7:100862600-100864000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr7:100862600-100864000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr7:100862600-100864200	Enhancers	Adipose Nuclei	Adipose
40	chr7:100862600-100864400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr7:100862600-100864600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:100862600-100864600	Weak transcription	Right Ventricle	heart
43	chr7:100862600-100864800	Weak transcription	NHLF	lung
44	chr7:100862600-100865000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:100862600-100865000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:100862600-100865000	Weak transcription	Brain Anterior Caudate	brain
47	chr7:100862600-100865000	Weak transcription	Esophagus	oesophagus
48	chr7:100862600-100865200	Weak transcription	Brain Germinal Matrix	brain
49	chr7:100862600-100865400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr7:100862600-100865400	Weak transcription	Brain Angular Gyrus	brain

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