Variant report

Variant	rs34279707
Chromosome Location	chr7:101273742-101273743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:101273741-101273791	MCF10A-Er-Src	breast:	n/a
2	chr7:101273741-101273791	AG04450	lung:	fetal
3	chr7:101273741-101273791	NHBE	bronchial:	n/a
4	chr7:101273741-101273791	IMR90	lung:	fetal
5	chr7:101273741-101273791	AG09309	skin:	n/a
6	chr7:101273741-101273791	GM19239	blood:	n/a
7	chr7:101273741-101273791	GM12892	blood:	n/a
8	chr7:101273741-101273791	AG09319	gingival:	n/a
9	chr7:101273741-101273791	Hela-S3	cervix:	n/a
10	chr7:101273741-101273791	Caco-2	colon:	n/a
11	chr7:101273741-101273791	SK-N-SH_RA	brain:	n/a
12	chr7:101273741-101273791	HEEpiC	esophagus:	n/a
13	chr7:101273741-101273791	RPTEC	kidney:	n/a
14	chr7:101273741-101273791	ECC-1	luminal epithelium:	n/a
15	chr7:101273741-101273791	SK-N-SH	brain:	n/a
16	chr7:101273741-101273791	HRCEpiC	kidney:	n/a
17	chr7:101273741-101273791	HUVEC	blood vessel:	n/a
18	chr7:101273741-101273791	GM12891	blood:	n/a
19	chr7:101273741-101273791	PANC-1	pancreas:	n/a
20	chr7:101273741-101273791	HCT-116	colon:	n/a
21	chr7:101273741-101273791	AG10803	skin:	n/a
22	chr7:101273741-101273791	NB4	blood:	n/a
23	chr7:101273741-101273791	HMEC	breast:	n/a
24	chr7:101273741-101273791	ProgFib	skin:	n/a
25	chr7:101273741-101273791	NT2-D1	testis:	n/a
26	chr7:101273741-101273791	HAEpiC	amniotic membrane:	n/a
27	chr7:101273741-101273791	HRE	kidney:	n/a
28	chr7:101273741-101273791	Hepatocyte	liver:	n/a
29	chr7:101273741-101273791	AoSMC	blood vessel:	n/a
30	chr7:101273741-101273791	HCM	heart:	n/a
31	chr7:101273741-101273791	HNPCEpiC	eye:	n/a
32	chr7:101273741-101273791	LNCaP	prostate:	n/a
33	chr7:101273741-101273791	MCF-7	breast:	n/a
34	chr7:101273741-101273791	GM06990	blood:	n/a
35	chr7:101273741-101273791	HPAEpiC	pulmonary alveolar:	n/a
36	chr7:101273741-101273791	BE2_C	brain:	n/a
37	chr7:101273741-101273791	AG04449	skin:	fetal
38	chr7:101273741-101273791	Jurkat	blood:	n/a
39	chr7:101273741-101273791	SK-N-MC	brain:	n/a
40	chr7:101273741-101273791	NHDF-neo	bronchial:	n/a
41	chr7:101273741-101273791	HCPEpiC	choroid plexus:	n/a
42	chr7:101273741-101273791	ovcar-3	ovarian:	n/a
43	chr7:101273741-101273791	HRPEpiC	eye:	n/a
44	chr7:101273741-101273791	HEK293	kidney:	embryo
45	chr7:101273741-101273791	SKMC	muscle:	n/a
46	chr7:101273741-101273791	U87	brain:	n/a
47	chr7:101273741-101273791	NH-A	brain:	n/a
48	chr7:101273741-101273791	PrEC	prostate:	n/a
49	chr7:101273741-101273791	HIPEpiC	eye:	n/a
50	chr7:101273741-101273791	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:101271948..101273835-chr7:101457651..101460196,2	MCF-7	breast:
2	chr7:101272795..101275451-chr7:101277536..101279709,2	MCF-7	breast:
3	chr7:101265195..101267380-chr7:101272779..101275035,3	MCF-7	breast:

No data

Variant related genes	Relation type
MYL10	CpG island
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10225578	0.85[EUR][1000 genomes]
rs12532732	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12539594	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13226908	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13236972	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239841	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs13241466	0.82[EUR][1000 genomes]
rs13245671	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4602817	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56126758	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs59746273	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67390976	0.88[AFR][1000 genomes];0.98[ASN][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	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
2	nsv888821	chr7:101091470-101311540	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv888822	chr7:101105017-101330734	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv888824	chr7:101109073-101330734	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv888825	chr7:101168283-101330734	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1018544	chr7:101225639-101424889	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv539045	chr7:101225639-101424889	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv888826	chr7:101230768-101277334	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv482758	chr7:101231458-101395219	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101258400-101274400	Weak transcription	Right Atrium	heart
2	chr7:101268400-101273800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:101268800-101274000	Weak transcription	Osteobl	bone
4	chr7:101269400-101275000	Enhancers	Placenta	Placenta
5	chr7:101269600-101273800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:101270000-101276800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:101270000-101279600	Enhancers	Fetal Muscle Leg	muscle
8	chr7:101272000-101273800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:101272000-101275200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:101272000-101279600	Enhancers	Fetal Muscle Trunk	muscle
11	chr7:101272400-101273800	Weak transcription	HSMMtube	muscle
12	chr7:101273200-101274000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:101273200-101274200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:101273400-101273800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:101273400-101275200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr7:101273400-101275200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr7:101273400-101275200	Enhancers	HUVEC	blood vessel
18	chr7:101273400-101275400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:101273400-101275400	Enhancers	HMEC	breast
20	chr7:101273600-101273800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:101273600-101273800	Enhancers	Psoas Muscle	Psoas
22	chr7:101273600-101273800	Flanking Active TSS	NHEK	skin
23	chr7:101273600-101274000	Bivalent Enhancer	Stomach Mucosa	stomach
24	chr7:101273600-101274200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr7:101273600-101274200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:101273600-101274200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:101273600-101274400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr7:101273600-101274600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:101273600-101274800	Enhancers	Fetal Thymus	thymus
30	chr7:101273600-101275200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:101273600-101275200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:101273600-101275200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:101273600-101275200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr7:101273600-101275200	Enhancers	HSMM	muscle
35	chr7:101273600-101275200	Enhancers	NH-A	brain

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