Variant report

Variant	rs73064604
Chromosome Location	chr7:5725188-5725189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5723586..5725455-chr7:5729876..5731680,2	K562	blood:
2	chr7:5721727..5723600-chr7:5725161..5726683,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3807583	0.92[ASN][1000 genomes]
rs4415230	0.91[ASN][1000 genomes]
rs4724711	0.81[ASN][1000 genomes]
rs7789481	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
5	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
6	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
7	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
8	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
9	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
10	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
11	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription 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	44 gene(s)	inside rSNPs	diseases
12	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
13	nsv887417	chr7:5667645-5760860	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
14	nsv887418	chr7:5675305-5772551	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
15	nsv887419	chr7:5703669-5820383	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
16	nsv1028652	chr7:5706207-5769489	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5674800-5728200	Weak transcription	Small Intestine	intestine
2	chr7:5702000-5730600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:5702800-5727200	Weak transcription	Psoas Muscle	Psoas
4	chr7:5713000-5730200	Weak transcription	Gastric	stomach
5	chr7:5717200-5726600	Genic enhancers	Fetal Muscle Leg	muscle
6	chr7:5717600-5726600	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr7:5717600-5727600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:5718000-5728200	Weak transcription	HMEC	breast
9	chr7:5718400-5731200	Weak transcription	HUVEC	blood vessel
10	chr7:5718400-5735600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:5719800-5727200	Weak transcription	NHDF-Ad	bronchial
12	chr7:5720200-5726800	Genic enhancers	Fetal Stomach	stomach
13	chr7:5720200-5741400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:5720400-5728600	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr7:5720600-5725600	Strong transcription	HepG2	liver
16	chr7:5720600-5730400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:5721200-5726600	Strong transcription	HSMM	muscle
18	chr7:5721800-5730400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:5722000-5727400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:5722000-5728600	Weak transcription	Colonic Mucosa	Colon
21	chr7:5722800-5726200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:5722800-5728200	Strong transcription	Dnd41	blood
23	chr7:5723000-5725400	Strong transcription	Aorta	Aorta
24	chr7:5723000-5725400	Genic enhancers	Spleen	Spleen
25	chr7:5723000-5726400	Strong transcription	Esophagus	oesophagus
26	chr7:5723000-5726400	Strong transcription	Thymus	Thymus
27	chr7:5723000-5726400	Strong transcription	HSMMtube	muscle
28	chr7:5723000-5726600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr7:5723000-5726600	Strong transcription	Osteobl	bone
30	chr7:5723000-5740800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr7:5723200-5725200	Weak transcription	Placenta	Placenta
32	chr7:5723200-5725400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:5723200-5725400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:5723200-5725600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
35	chr7:5723200-5725600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr7:5723200-5725600	Genic enhancers	Fetal Thymus	thymus
37	chr7:5723200-5726200	Genic enhancers	Primary T cells from cord blood	blood
38	chr7:5723200-5726600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:5723200-5726600	Strong transcription	NH-A	brain
40	chr7:5723400-5726400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:5723400-5726600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:5723400-5726600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:5723400-5726600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:5723400-5726600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr7:5723400-5727200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr7:5723400-5727200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:5723400-5728600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:5723400-5730200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:5723400-5740600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr7:5723400-5766400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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