Variant report

Variant	rs6945055
Chromosome Location	chr7:103086835-103086836
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
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	MAX	chr7:103085498-103087027	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr7:103085407-103087220	H1-hESC	embryonic stem cell:	n/a	n/a
3	UBTF	chr7:103086221-103086923	K562	blood:	n/a	n/a
4	HA-E2F1	chr7:103086104-103087120	MCF-7	breast:	n/a	n/a
5	E2F6	chr7:103085573-103087076	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr7:103086373-103086978	HepG2	liver:	n/a	n/a
7	SIN3A	chr7:103085784-103086921	H1-hESC	embryonic stem cell:	n/a	n/a
8	HA-E2F1	chr7:103086376-103086935	Hela-S3	cervix:	n/a	n/a
9	MAX	chr7:103086324-103087083	ECC-1	luminal epithelium:	n/a	n/a
10	TCF12	chr7:103086443-103087157	ECC-1	luminal epithelium:	n/a	n/a
11	MAX	chr7:103085632-103087077	H1-hESC	embryonic stem cell:	n/a	n/a
12	TBP	chr7:103086762-103086937	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr7:103086174-103087129	MCF-7	breast:	n/a	n/a
14	TEAD4	chr7:103086623-103087027	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr7:103086674-103087055	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr7:103086360-103087136	ECC-1	luminal epithelium:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:103086829-103086879	SK-N-SH_RA	brain:	n/a
2	chr7:103086804-103086854	U87	brain:	n/a
3	chr7:103086804-103086854	H1-hESC	embryonic stem cell:	embryo
4	chr7:103086804-103086854	HEK293	kidney:	embryo
5	chr7:103086829-103086879	AG09309	skin:	n/a
6	chr7:103086829-103086879	AG04449	skin:	fetal
7	chr7:103086804-103086854	HAEpiC	amniotic membrane:	n/a
8	chr7:103086804-103086854	HRE	kidney:	n/a
9	chr7:103086804-103086854	CMK	blood:	n/a
10	chr7:103086804-103086854	HEEpiC	esophagus:	n/a
11	chr7:103086829-103086879	AG04450	lung:	fetal
12	chr7:103086804-103086854	HL-60	blood:	n/a
13	chr7:103086829-103086879	U87	brain:	n/a
14	chr7:103086829-103086879	NHDF-neo	bronchial:	n/a
15	chr7:103086829-103086879	HEK293	kidney:	embryo
16	chr7:103086804-103086854	Jurkat	blood:	n/a
17	chr7:103086804-103086854	HepG2	liver:	n/a
18	chr7:103086804-103086854	ECC-1	luminal epithelium:	n/a
19	chr7:103086829-103086879	HCT-116	colon:	n/a
20	chr7:103086804-103086854	MCF-7	breast:	n/a
21	chr7:103086829-103086879	GM12892	blood:	n/a
22	chr7:103086804-103086854	AoSMC	blood vessel:	n/a
23	chr7:103086829-103086879	PANC-1	pancreas:	n/a
24	chr7:103086829-103086879	RPTEC	kidney:	n/a
25	chr7:103086804-103086854	HCT-116	colon:	n/a
26	chr7:103086829-103086879	MCF10A-Er-Src	breast:	n/a
27	chr7:103086804-103086854	GM12878	blood:	n/a
28	chr7:103086829-103086879	HIPEpiC	eye:	n/a
29	chr7:103086829-103086879	Hela-S3	cervix:	n/a
30	chr7:103086829-103086879	BE2_C	brain:	n/a
31	chr7:103086804-103086854	NHDF-neo	bronchial:	n/a
32	chr7:103086804-103086854	MCF10A-Er-Src	breast:	n/a
33	chr7:103086804-103086854	BE2_C	brain:	n/a
34	chr7:103086829-103086879	CMK	blood:	n/a
35	chr7:103086829-103086879	HAEpiC	amniotic membrane:	n/a
36	chr7:103086804-103086854	K562	blood:	n/a
37	chr7:103086829-103086879	HepG2	liver:	n/a
38	chr7:103086804-103086854	PrEC	prostate:	n/a
39	chr7:103086829-103086879	NHBE	bronchial:	n/a
40	chr7:103086804-103086854	NHBE	bronchial:	n/a
41	chr7:103086804-103086854	AG09309	skin:	n/a
42	chr7:103086829-103086879	SAEC	small airway:	n/a
43	chr7:103086829-103086879	HNPCEpiC	eye:	n/a
44	chr7:103086804-103086854	SK-N-SH	brain:	n/a
45	chr7:103086829-103086879	GM12878	blood:	n/a
46	chr7:103086804-103086854	BJ	skin:	n/a
47	chr7:103086804-103086854	AG09319	gingival:	n/a
48	chr7:103086829-103086879	GM06990	blood:	n/a
49	chr7:103086804-103086854	ovcar-3	ovarian:	n/a
50	chr7:103086804-103086854	HRPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102936543..102939393-chr7:103085608..103089565,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSMC2-1	chr7:103085654-103086966	ENSG00000234715

No data

Variant related genes	Relation type
SLC26A5	TF binding region
SLC26A5	CpG island
ENSG00000105819	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1004245	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190419	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2382689	1.00[ASN][1000 genomes]
rs2382693	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2382694	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2906639	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2965086	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6465922	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6465925	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6953562	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954159	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs735459	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7798857	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7802470	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers 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 target site	23 gene(s)	inside rSNPs	diseases
2	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103085400-103087200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:103085600-103087000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr7:103085600-103087000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:103085600-103087000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:103085600-103087000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
6	chr7:103085600-103087000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr7:103085600-103087000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:103085600-103087000	Active TSS	Aorta	Aorta
9	chr7:103085600-103087000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:103085600-103087000	Bivalent Enhancer	Fetal Brain Male	brain
11	chr7:103085600-103087000	Bivalent Enhancer	Fetal Intestine Large	intestine
12	chr7:103085600-103087000	Active TSS	Rectal Smooth Muscle	rectum
13	chr7:103085600-103087200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:103085800-103087000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:103085800-103087000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr7:103085800-103087000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:103085800-103087000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:103085800-103087000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:103085800-103087000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:103085800-103087000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:103085800-103087000	Bivalent Enhancer	Placenta	Placenta
22	chr7:103085800-103087000	Active TSS	Right Atrium	heart
23	chr7:103085800-103087000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
24	chr7:103085800-103087200	Bivalent Enhancer	Fetal Thymus	thymus
25	chr7:103086000-103087000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:103086000-103087000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
27	chr7:103086200-103087000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr7:103086200-103087000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:103086200-103087000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
30	chr7:103086200-103087000	Bivalent Enhancer	Esophagus	oesophagus
31	chr7:103086200-103087000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
32	chr7:103086200-103087000	Bivalent Enhancer	Spleen	Spleen
33	chr7:103086400-103087000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:103086400-103087000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr7:103086400-103087000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:103086400-103087000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
37	chr7:103086400-103087000	Bivalent Enhancer	Fetal Intestine Small	intestine
38	chr7:103086400-103087000	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr7:103086400-103087200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr7:103086400-103088000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
41	chr7:103086600-103087000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:103086600-103087000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:103086600-103087000	Bivalent Enhancer	Primary B cells from cord blood	blood
44	chr7:103086600-103087000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
45	chr7:103086600-103087000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
46	chr7:103086600-103087000	Bivalent Enhancer	Fetal Stomach	stomach
47	chr7:103086600-103087000	Enhancers	Pancreas	Pancrea
48	chr7:103086600-103087000	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr7:103086600-103087000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
50	chr7:103086600-103087000	Bivalent Enhancer	Stomach Mucosa	stomach

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