Variant report

Variant	rs73305347
Chromosome Location	chr7:4794351-4794352
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:4794220-4794370	AG04449	skin:	n/a	n/a
2	HMGN3	chr7:4793216-4794479	K562	blood:	n/a	n/a
3	SMC3	chr7:4793308-4794461	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:4794309-4794359	AG10803	skin:	n/a
2	chr7:4794309-4794359	GM12892	blood:	n/a
3	chr7:4794309-4794359	GM19239	blood:	n/a
4	chr7:4794309-4794359	HRE	kidney:	n/a
5	chr7:4794309-4794359	ProgFib	skin:	n/a
6	chr7:4794309-4794359	H1-hESC	embryonic stem cell:	embryo
7	chr7:4794309-4794359	AG09309	skin:	n/a
8	chr7:4794309-4794359	PANC-1	pancreas:	n/a
9	chr7:4794309-4794359	NT2-D1	testis:	n/a
10	chr7:4794309-4794359	HPAEpiC	pulmonary alveolar:	n/a
11	chr7:4794309-4794359	ECC-1	luminal epithelium:	n/a
12	chr7:4794309-4794359	NHDF-neo	bronchial:	n/a
13	chr7:4794309-4794359	Caco-2	colon:	n/a
14	chr7:4794309-4794359	SAEC	small airway:	n/a
15	chr7:4794309-4794359	MCF-7	breast:	n/a
16	chr7:4794309-4794359	HIPEpiC	eye:	n/a
17	chr7:4794309-4794359	GM12878	blood:	n/a
18	chr7:4794309-4794359	A549	lung:	n/a
19	chr7:4794309-4794359	AG04449	skin:	fetal
20	chr7:4794309-4794359	BJ	skin:	n/a
21	chr7:4794309-4794359	Hela-S3	cervix:	n/a
22	chr7:4794309-4794359	PrEC	prostate:	n/a
23	chr7:4794309-4794359	HRCEpiC	kidney:	n/a
24	chr7:4794309-4794359	HEK293	kidney:	embryo
25	chr7:4794309-4794359	Hepatocyte	liver:	n/a
26	chr7:4794309-4794359	HCF	heart:	n/a
27	chr7:4794309-4794359	NHBE	bronchial:	n/a
28	chr7:4794309-4794359	ovcar-3	ovarian:	n/a
29	chr7:4794309-4794359	HEEpiC	esophagus:	n/a
30	chr7:4794309-4794359	AG04450	lung:	fetal
31	chr7:4794309-4794359	SK-N-SH_RA	brain:	n/a
32	chr7:4794309-4794359	SK-N-MC	brain:	n/a
33	chr7:4794309-4794359	RPTEC	kidney:	n/a
34	chr7:4794309-4794359	MCF10A-Er-Src	breast:	n/a
35	chr7:4794309-4794359	PFSK-1	brain:	n/a
36	chr7:4794309-4794359	Jurkat	blood:	n/a
37	chr7:4794309-4794359	HUVEC	blood vessel:	n/a
38	chr7:4794309-4794359	K562	blood:	n/a
39	chr7:4794309-4794359	U87	brain:	n/a
40	chr7:4794309-4794359	SKMC	muscle:	n/a
41	chr7:4794309-4794359	NB4	blood:	n/a
42	chr7:4794309-4794359	LNCaP	prostate:	n/a
43	chr7:4794309-4794359	HNPCEpiC	eye:	n/a
44	chr7:4794309-4794359	GM12891	blood:	n/a
45	chr7:4794309-4794359	IMR90	lung:	fetal
46	chr7:4794309-4794359	HL-60	blood:	n/a
47	chr7:4794309-4794359	SK-N-SH	brain:	n/a
48	chr7:4794309-4794359	HCM	heart:	n/a
49	chr7:4794309-4794359	T-47D	breast:	n/a
50	chr7:4794309-4794359	GM06990	blood:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:4792550..4795090-chr7:4815191..4818124,2	MCF-7	breast:
2	chr7:4788982..4795198-chr7:4795657..4801096,8	K562	blood:
3	chr7:4783569..4786277-chr7:4791910..4794982,3	K562	blood:
4	chr7:4792694..4795268-chr7:4814158..4816724,2	K562	blood:
5	chr7:4720495..4726160-chr7:4791372..4795922,9	MCF-7	breast:
6	chr7:4792959..4795296-chr7:4800796..4803587,3	MCF-7	breast:
7	chr7:4721259..4723497-chr7:4791375..4795553,3	MCF-7	breast:
8	chr7:4793093..4794634-chr7:4797819..4799999,2	MCF-7	breast:
9	chr7:4789556..4791176-chr7:4793025..4794713,2	K562	blood:
10	chr7:4777042..4778807-chr7:4793981..4795930,2	MCF-7	breast:
11	chr7:4726371..4729844-chr7:4793703..4795721,3	MCF-7	breast:
12	chr7:4649069..4651516-chr7:4792716..4794957,2	MCF-7	breast:
13	chr7:4792694..4795156-chr7:4813605..4815658,2	K562	blood:
14	chr7:4791246..4795180-chr7:4795440..4798794,5	K562	blood:

No data

Variant related genes	Relation type
FOXK1	TF binding region
FOXK1	CpG island
ENSG00000242802	Chromatin interaction
ENSG00000238781	Chromatin interaction
ENSG00000164916	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10226141	1.00[EUR][1000 genomes]
rs10266195	1.00[EUR][1000 genomes]
rs58317459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59177795	1.00[AMR][1000 genomes]
rs6463033	1.00[EUR][1000 genomes]
rs73305332	1.00[AMR][1000 genomes]
rs73305335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73305338	1.00[EUR][1000 genomes]
rs73305354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73305386	1.00[EUR][1000 genomes]
rs73312637	1.00[EUR][1000 genomes]
rs73314475	1.00[AMR][1000 genomes]
rs7341401	1.00[EUR][1000 genomes]
rs7810183	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv887379	chr7:4749527-4828593	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv471293	chr7:4764861-4885221	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS 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	20 gene(s)	inside rSNPs	diseases
10	nsv887381	chr7:4769030-4880954	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
11	nsv971482	chr7:4786671-4795436	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv823994	chr7:4792385-4928328	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
13	nsv887382	chr7:4792762-4880954	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 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	chr7:4784200-4801400	Weak transcription	Small Intestine	intestine
2	chr7:4784600-4794400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:4785200-4795000	Weak transcription	Psoas Muscle	Psoas
4	chr7:4785200-4814200	Weak transcription	Fetal Brain Male	brain
5	chr7:4785600-4814400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:4786000-4794400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:4786400-4808400	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:4786600-4794800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:4786600-4798000	Weak transcription	NH-A	brain
10	chr7:4786600-4804400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:4786600-4809000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:4786800-4794800	Weak transcription	Primary B cells from cord blood	blood
13	chr7:4786800-4796600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:4786800-4801600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:4786800-4807400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:4787000-4797400	Weak transcription	NHDF-Ad	bronchial
17	chr7:4787000-4807600	Strong transcription	Dnd41	blood
18	chr7:4787400-4794800	Strong transcription	Thymus	Thymus
19	chr7:4787600-4812400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:4788200-4797800	Weak transcription	HSMM	muscle
21	chr7:4788200-4808200	Weak transcription	Fetal Heart	heart
22	chr7:4788200-4812400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:4788400-4794600	Weak transcription	HSMMtube	muscle
24	chr7:4788400-4795400	Weak transcription	Fetal Kidney	kidney
25	chr7:4788400-4808400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:4788400-4813800	Weak transcription	Right Atrium	heart
27	chr7:4789200-4804000	Strong transcription	Fetal Stomach	stomach
28	chr7:4789600-4814400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:4789800-4794600	Weak transcription	Fetal Lung	lung
30	chr7:4790000-4794800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:4790400-4807200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr7:4791000-4804200	Strong transcription	Fetal Thymus	thymus
33	chr7:4791200-4808000	Strong transcription	Fetal Muscle Leg	muscle
34	chr7:4791400-4794400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr7:4791800-4801600	Strong transcription	NHEK	skin
36	chr7:4791800-4809000	Strong transcription	NHLF	lung
37	chr7:4792000-4800800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:4792000-4808200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:4792400-4803600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr7:4792400-4807600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:4792800-4794600	Genic enhancers	Stomach Smooth Muscle	stomach
42	chr7:4793000-4795000	Genic enhancers	Esophagus	oesophagus
43	chr7:4793200-4794400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:4793200-4804000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:4793200-4808800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:4793400-4794400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:4793400-4795800	Strong transcription	K562	blood
48	chr7:4793400-4807400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:4793400-4807600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:4793600-4794400	Weak transcription	Hela-S3	cervix

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