Variant report

Variant	rs73706951
Chromosome Location	chr7:87538641-87538642
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:87505665..87507649-chr7:87536982..87538921,2	K562	blood:
2	chr7:87531813..87533646-chr7:87537666..87539437,2	MCF-7	breast:
3	chr7:87537825..87540593-chr7:87542294..87543828,2	K562	blood:
4	chr7:87538165..87540523-chr7:87541875..87543442,2	K562	blood:
5	chr7:87533476..87536222-chr7:87537318..87539544,2	K562	blood:

Variant related genes	Relation type
ENSG00000075303	Chromatin interaction
ENSG00000006634	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55836201	1.00[AMR][1000 genomes]
rs58230868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60252141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6952344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6952582	1.00[AMR][1000 genomes]
rs6977504	1.00[AMR][1000 genomes]
rs73706930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7782839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv888696	chr7:87526944-87594188	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv525073	chr7:87535096-87812968	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87506600-87539600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:87506600-87539600	Weak transcription	Pancreas	Pancrea
3	chr7:87506800-87540400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:87507200-87539200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:87507600-87539400	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:87508200-87539000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:87508200-87539200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:87508200-87539400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:87508200-87539600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:87516600-87539600	Weak transcription	Spleen	Spleen
11	chr7:87529200-87540000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:87529400-87547800	Weak transcription	NHEK	skin
13	chr7:87530200-87540200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr7:87532400-87540000	Weak transcription	Primary B cells from cord blood	blood
15	chr7:87532600-87541600	Weak transcription	HUVEC	blood vessel
16	chr7:87533200-87539800	Weak transcription	Fetal Stomach	stomach
17	chr7:87534400-87541800	Weak transcription	Fetal Intestine Small	intestine
18	chr7:87534600-87540000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr7:87535000-87540400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:87535000-87543000	Weak transcription	HSMM	muscle
21	chr7:87535200-87539000	Weak transcription	A549	lung
22	chr7:87535200-87539400	Weak transcription	NH-A	brain
23	chr7:87535200-87540000	Weak transcription	Fetal Intestine Large	intestine
24	chr7:87535600-87538800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr7:87535600-87539000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr7:87535600-87539800	Weak transcription	Left Ventricle	heart
27	chr7:87535800-87538800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:87535800-87540200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:87535800-87540400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr7:87535800-87541400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr7:87535800-87547800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:87536600-87539000	Weak transcription	NHDF-Ad	bronchial
33	chr7:87536600-87539400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:87536800-87538800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr7:87536800-87539800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:87536800-87540400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:87537000-87539400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:87537200-87539600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:87537200-87540800	Weak transcription	HMEC	breast
40	chr7:87537200-87547800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:87537400-87539200	Weak transcription	Dnd41	blood
42	chr7:87537400-87539400	Weak transcription	K562	blood
43	chr7:87537400-87539800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:87537400-87540000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:87537400-87540200	Weak transcription	GM12878-XiMat	blood
46	chr7:87537400-87540600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr7:87537400-87541000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:87537400-87541400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr7:87538000-87539800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:87538000-87541400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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