Variant report

Variant	rs73674091
Chromosome Location	chr7:4794620-4794621
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

(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
ENSG00000238781	Chromatin interaction
ENSG00000164916	Chromatin interaction
ENSG00000242802	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17135086	0.96[EUR][1000 genomes]
rs73674090	0.87[AMR][1000 genomes]
rs7777890	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7802515	0.87[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	chr7:4785200-4795000	Weak transcription	Psoas Muscle	Psoas
3	chr7:4785200-4814200	Weak transcription	Fetal Brain Male	brain
4	chr7:4785600-4814400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:4786400-4808400	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:4786600-4794800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:4786600-4798000	Weak transcription	NH-A	brain
8	chr7:4786600-4804400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:4786600-4809000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:4786800-4794800	Weak transcription	Primary B cells from cord blood	blood
11	chr7:4786800-4796600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:4786800-4801600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:4786800-4807400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:4787000-4797400	Weak transcription	NHDF-Ad	bronchial
15	chr7:4787000-4807600	Strong transcription	Dnd41	blood
16	chr7:4787400-4794800	Strong transcription	Thymus	Thymus
17	chr7:4787600-4812400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:4788200-4797800	Weak transcription	HSMM	muscle
19	chr7:4788200-4808200	Weak transcription	Fetal Heart	heart
20	chr7:4788200-4812400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:4788400-4795400	Weak transcription	Fetal Kidney	kidney
22	chr7:4788400-4808400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:4788400-4813800	Weak transcription	Right Atrium	heart
24	chr7:4789200-4804000	Strong transcription	Fetal Stomach	stomach
25	chr7:4789600-4814400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:4790000-4794800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:4790400-4807200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr7:4791000-4804200	Strong transcription	Fetal Thymus	thymus
29	chr7:4791200-4808000	Strong transcription	Fetal Muscle Leg	muscle
30	chr7:4791800-4801600	Strong transcription	NHEK	skin
31	chr7:4791800-4809000	Strong transcription	NHLF	lung
32	chr7:4792000-4800800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:4792000-4808200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:4792400-4803600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:4792400-4807600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:4793000-4795000	Genic enhancers	Esophagus	oesophagus
37	chr7:4793200-4804000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:4793200-4808800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:4793400-4795800	Strong transcription	K562	blood
40	chr7:4793400-4807400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:4793400-4807600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:4793600-4797600	Strong transcription	GM12878-XiMat	blood
43	chr7:4793600-4805800	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr7:4793600-4807600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr7:4793600-4807800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr7:4793800-4796200	Strong transcription	Primary hematopoietic stem cells	blood
47	chr7:4793800-4797600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:4793800-4798600	Strong transcription	HUVEC	blood vessel
49	chr7:4793800-4799800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr7:4793800-4803400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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