Variant report

Variant	rs9648578
Chromosome Location	chr7:5749487-5749488
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5747779..5749512-chr7:5750944..5752656,2	K562	blood:
2	chr7:5744349..5746667-chr7:5749074..5751535,3	MCF-7	breast:
3	chr7:5730233..5731843-chr7:5748087..5750689,2	K562	blood:
4	chr7:5748877..5750646-chr7:5760889..5763281,2	MCF-7	breast:
5	chr7:5742111..5744316-chr7:5749333..5751085,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10232762	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10233615	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10241310	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259773	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10275238	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1035331	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11531468	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12531598	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1990836	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2009260	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2287593	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2287595	1.00[ASN][1000 genomes]
rs2345938	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3735289	1.00[ASN][1000 genomes]
rs3801016	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3801019	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823683	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720640	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4720641	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4720642	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4724713	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4724718	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61203027	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6463506	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6463507	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944143	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6956960	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958272	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6960381	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6960897	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7777831	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7800691	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803308	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs852257	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852258	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852265	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852266	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852267	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852375	0.83[EUR][1000 genomes]
rs852376	0.83[EUR][1000 genomes]
rs852397	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852402	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852409	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852410	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs852415	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs852420	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs852421	0.83[EUR][1000 genomes]
rs852448	0.81[ASN][1000 genomes]
rs852457	0.81[ASN][1000 genomes]
rs852468	0.83[EUR][1000 genomes]
rs852516	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs888582	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs888583	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv830891	chr7:5726301-5895460	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
17	nsv1028601	chr7:5748982-5919098	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
18	nsv1034215	chr7:5748982-6056619	Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
19	nsv1016690	chr7:5749222-6056619	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 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	chr7:5723400-5766400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:5737400-5767200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:5737600-5774200	Strong transcription	Dnd41	blood
4	chr7:5739600-5769600	Strong transcription	Fetal Intestine Large	intestine
5	chr7:5740000-5760800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:5741200-5763600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:5741800-5750200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:5742000-5750200	Weak transcription	Esophagus	oesophagus
9	chr7:5742000-5757200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:5744200-5750200	Weak transcription	Psoas Muscle	Psoas
11	chr7:5744200-5760800	Weak transcription	Fetal Brain Male	brain
12	chr7:5744200-5760800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:5744200-5766600	Weak transcription	Stomach Mucosa	stomach
14	chr7:5744200-5769400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:5744400-5760000	Weak transcription	Fetal Heart	heart
16	chr7:5744600-5749600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:5744600-5757400	Strong transcription	NH-A	brain
18	chr7:5744600-5762800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:5744600-5764000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:5744600-5769400	Strong transcription	Primary T cells from cord blood	blood
21	chr7:5744600-5769600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr7:5744800-5756400	Strong transcription	Fetal Thymus	thymus
23	chr7:5744800-5762600	Strong transcription	Placenta	Placenta
24	chr7:5744800-5762800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr7:5744800-5769200	Strong transcription	Fetal Muscle Leg	muscle
26	chr7:5744800-5769600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:5745000-5769200	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:5745000-5769800	Strong transcription	Liver	Liver
29	chr7:5745600-5750400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:5745800-5752600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:5746000-5749600	Strong transcription	HUVEC	blood vessel
32	chr7:5746000-5750200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:5746000-5751200	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:5746000-5751200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:5746000-5753000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr7:5746000-5755400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:5746000-5755800	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:5746000-5756200	Strong transcription	Primary B cells from cord blood	blood
39	chr7:5746000-5756400	Strong transcription	Primary B cells from peripheral blood	blood
40	chr7:5746000-5756800	Strong transcription	Osteobl	bone
41	chr7:5746000-5757200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr7:5746000-5757200	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:5746000-5757200	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:5746000-5757600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr7:5746000-5761600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr7:5746000-5763000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:5746000-5769600	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr7:5746000-5770400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:5746000-5771200	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr7:5746200-5751200	Strong transcription	HUES48 Cell Line	embryonic stem cell

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