Variant report

Variant	rs7385193
Chromosome Location	chr7:102071420-102071421
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr7:102071175-102071684	GM12878	blood:	n/a	n/a
2	MYC	chr7:102071264-102071723	NB4	blood:	n/a	chr7:102071521-102071530
3	BCLAF1	chr7:102071299-102071713	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:102070937-102071545	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr7:102071181-102072804	GM12878	blood:	n/a	n/a
6	FOXA1	chr7:102071292-102071547	T-47D	breast:	n/a	n/a
7	POLR2A	chr7:102071362-102071571	GM12878	blood:	n/a	n/a
8	ELF1	chr7:102071198-102071751	GM12878	blood:	n/a	n/a
9	MTA3	chr7:102071105-102071633	GM12878	blood:	n/a	n/a
10	MAX	chr7:102071343-102071491	GM12878	blood:	n/a	n/a
11	RUNX3	chr7:102071292-102071650	GM12878	blood:	n/a	n/a
12	RUNX3	chr7:102071300-102072822	GM12878	blood:	n/a	chr7:102072432-102072441 chr7:102072432-102072441
13	MAX	chr7:102071218-102072788	NB4	blood:	n/a	chr7:102071521-102071530
14	CREB1	chr7:102071202-102071784	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:102071325-102072015	HepG2	liver:	n/a	n/a
16	TBL1XR1	chr7:102071361-102071567	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:102071246-102071627	HL-60	blood:	n/a	n/a
18	EBF1	chr7:102071262-102071550	GM12878	blood:	n/a	n/a
19	ELF1	chr7:102071368-102071626	K562	blood:	n/a	n/a
20	MTA3	chr7:102071138-102073907	GM12878	blood:	n/a	n/a
21	FOXP2	chr7:102071323-102071606	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr7:102071269-102073515	GM12891	blood:	n/a	n/a
23	WRNIP1	chr7:102071357-102071534	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:102071061-102071690	HL-60	blood:	n/a	n/a
25	POLR2A	chr7:102071118-102071657	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr7:102071370-102071451	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:102069773..102072990-chr7:102073477..102075231,3	K562	blood:
2	chr7:102063067..102066587-chr7:102070734..102073141,4	MCF-7	breast:
3	chr7:102065043..102072034-chr7:102072127..102076587,12	MCF-7	breast:
4	chr7:101928787..101931103-chr7:102068697..102071521,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALKBH4-3	chr7:102071253-102071531	NONHSAT122499

No data

Variant related genes	Relation type
ORAI2	TF binding region
ENSG00000239480	Chromatin interaction
ENSG00000160991	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10226605	0.82[AFR][1000 genomes]
rs10240546	1.00[EUR][1000 genomes]
rs10265187	1.00[EUR][1000 genomes]
rs10281876	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1089797	1.00[EUR][1000 genomes]
rs1141567	1.00[EUR][1000 genomes]
rs1734770	1.00[EUR][1000 genomes]
rs1997165	0.83[AFR][1000 genomes]
rs1997166	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2141041	1.00[EUR][1000 genomes]
rs57013410	1.00[EUR][1000 genomes]
rs57055721	1.00[EUR][1000 genomes]
rs57369710	1.00[EUR][1000 genomes]
rs6465856	1.00[EUR][1000 genomes]
rs6465857	1.00[EUR][1000 genomes]
rs6465862	1.00[EUR][1000 genomes]
rs6465863	1.00[EUR][1000 genomes]
rs6968559	1.00[EUR][1000 genomes]
rs73404325	1.00[EUR][1000 genomes]
rs73404327	1.00[EUR][1000 genomes]
rs73406252	1.00[EUR][1000 genomes]
rs73408205	1.00[EUR][1000 genomes]
rs73408207	1.00[EUR][1000 genomes]
rs73712461	1.00[EUR][1000 genomes]
rs7384395	1.00[EUR][1000 genomes]
rs7455543	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7811790	1.00[EUR][1000 genomes]
rs803068	1.00[EUR][1000 genomes]
rs803100	1.00[EUR][1000 genomes]
rs803101	1.00[EUR][1000 genomes]
rs803107	1.00[EUR][1000 genomes]
rs803108	1.00[EUR][1000 genomes]
rs803110	1.00[EUR][1000 genomes]
rs803113	1.00[EUR][1000 genomes]
rs803116	1.00[EUR][1000 genomes]
rs941064	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers 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 lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS 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	61 gene(s)	inside rSNPs	diseases
7	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
10	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
11	nsv1029079	chr7:101939998-102112371	Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS 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	32 gene(s)	inside rSNPs	diseases
12	esv1818954	chr7:101957513-102328097	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv1828190	chr7:101966669-102439077	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
14	esv1829377	chr7:101970299-102330884	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv831083	chr7:101981005-102295869	Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	esv1806297	chr7:101981544-102330884	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
17	esv1810415	chr7:101993063-102375950	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	46 gene(s)	inside rSNPs	diseases
18	esv1811751	chr7:101993063-102375950	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
19	esv1829118	chr7:101993063-102375950	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
20	esv1833155	chr7:101993063-102375950	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102050800-102073400	Weak transcription	Psoas Muscle	Psoas
2	chr7:102051200-102073400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:102051400-102074400	Weak transcription	Fetal Heart	heart
4	chr7:102053600-102073200	Weak transcription	Right Atrium	heart
5	chr7:102054000-102073400	Weak transcription	Small Intestine	intestine
6	chr7:102061600-102072200	Weak transcription	HMEC	breast
7	chr7:102066000-102073400	Weak transcription	HUVEC	blood vessel
8	chr7:102066200-102072400	Weak transcription	Brain Angular Gyrus	brain
9	chr7:102066200-102074000	Weak transcription	Fetal Lung	lung
10	chr7:102066400-102072200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:102066400-102073600	Weak transcription	NHDF-Ad	bronchial
12	chr7:102066600-102073400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:102066800-102073200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:102067000-102072200	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:102067400-102073200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:102067400-102073200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:102067400-102073400	Weak transcription	Aorta	Aorta
18	chr7:102067400-102073400	Weak transcription	NH-A	brain
19	chr7:102067400-102073600	Weak transcription	Hela-S3	cervix
20	chr7:102067600-102071600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:102067600-102071800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr7:102067600-102072000	Enhancers	Primary B cells from peripheral blood	blood
23	chr7:102067600-102072000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr7:102067600-102072200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:102067600-102072200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:102067600-102072200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr7:102067600-102072400	Weak transcription	Pancreas	Pancrea
28	chr7:102067600-102072400	Weak transcription	Right Ventricle	heart
29	chr7:102067600-102073000	Weak transcription	Osteobl	bone
30	chr7:102067600-102073400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr7:102067800-102071600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr7:102067800-102071600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr7:102067800-102071600	Weak transcription	HepG2	liver
34	chr7:102067800-102071800	Enhancers	Primary B cells from cord blood	blood
35	chr7:102067800-102071800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr7:102067800-102071800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr7:102067800-102071800	Weak transcription	Liver	Liver
38	chr7:102067800-102072000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:102067800-102072200	Enhancers	Primary hematopoietic stem cells	blood
40	chr7:102067800-102072600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:102067800-102073200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:102067800-102073200	Weak transcription	HSMMtube	muscle
43	chr7:102067800-102073400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:102067800-102073400	Weak transcription	Left Ventricle	heart
45	chr7:102067800-102073400	Weak transcription	NHLF	lung
46	chr7:102067800-102073600	Weak transcription	Gastric	stomach
47	chr7:102068000-102071600	Enhancers	Primary T cells from cord blood	blood
48	chr7:102068000-102072400	Weak transcription	Brain Germinal Matrix	brain
49	chr7:102068000-102073000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:102068200-102071800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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