Variant report

Variant	rs852448
Chromosome Location	chr7:5672469-5672470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5663770..5665922-chr7:5672442..5674114,2	K562	blood:
2	chr7:5663770..5665768-chr7:5672068..5673942,2	K562	blood:
3	chr7:5670921..5673137-chr7:5680977..5682945,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10232762	0.81[ASN][1000 genomes]
rs10241310	0.81[ASN][1000 genomes]
rs2287593	0.81[ASN][1000 genomes]
rs2287595	0.81[ASN][1000 genomes]
rs28417882	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3735289	0.81[ASN][1000 genomes]
rs3801019	0.81[ASN][1000 genomes]
rs3823683	0.81[ASN][1000 genomes]
rs4724713	0.81[ASN][1000 genomes]
rs61203027	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6463506	0.81[ASN][1000 genomes]
rs6463507	0.81[ASN][1000 genomes]
rs6956960	0.81[ASN][1000 genomes]
rs710941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7777831	0.81[ASN][1000 genomes]
rs7796461	0.81[ASN][1000 genomes]
rs7800691	0.81[ASN][1000 genomes]
rs852265	0.81[ASN][1000 genomes]
rs852266	0.81[ASN][1000 genomes]
rs852267	0.81[ASN][1000 genomes]
rs852375	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs852376	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs852397	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs852402	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs852409	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs852410	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs852415	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs852420	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs852421	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs852441	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs852450	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs852453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs852457	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs852461	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs852468	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs852472	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs852489	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs852516	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs860425	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs888582	0.81[ASN][1000 genomes]
rs888583	0.81[ASN][1000 genomes]
rs9648578	0.81[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	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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	333 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
8	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
9	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
14	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	nsv1034883	chr7:5651680-5696147	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5647600-5673200	Weak transcription	Fetal Brain Male	brain
2	chr7:5655600-5673200	Weak transcription	Psoas Muscle	Psoas
3	chr7:5659000-5672800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr7:5659200-5673400	Strong transcription	Dnd41	blood
5	chr7:5660600-5693800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:5661800-5673600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:5663000-5673200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:5663000-5673200	Weak transcription	Stomach Mucosa	stomach
9	chr7:5664200-5673600	Weak transcription	Colonic Mucosa	Colon
10	chr7:5664600-5673200	Weak transcription	Aorta	Aorta
11	chr7:5664600-5673400	Weak transcription	Small Intestine	intestine
12	chr7:5665000-5673200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:5665400-5673200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:5666000-5673600	Strong transcription	Fetal Intestine Small	intestine
15	chr7:5666200-5674200	Weak transcription	Primary B cells from cord blood	blood
16	chr7:5666800-5673200	Weak transcription	Brain Germinal Matrix	brain
17	chr7:5666800-5673600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:5667000-5673000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:5667000-5673000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:5667000-5674200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:5667600-5672600	Genic enhancers	Fetal Muscle Leg	muscle
22	chr7:5667600-5673000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:5667800-5672600	Strong transcription	Fetal Intestine Large	intestine
24	chr7:5667800-5673400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:5668000-5673200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:5668600-5675400	Weak transcription	Hela-S3	cervix
27	chr7:5669400-5672800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:5669400-5673200	Enhancers	NHDF-Ad	bronchial
29	chr7:5669400-5674200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr7:5669600-5672600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr7:5669600-5672600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr7:5669600-5672600	Genic enhancers	Spleen	Spleen
33	chr7:5669600-5672800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:5669600-5673800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:5669600-5674000	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr7:5669600-5674000	Enhancers	Brain Anterior Caudate	brain
37	chr7:5669600-5675800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr7:5669800-5672600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr7:5669800-5672800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:5669800-5677600	Genic enhancers	Fetal Stomach	stomach
41	chr7:5670000-5672600	Genic enhancers	Primary T cells from cord blood	blood
42	chr7:5670000-5673200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:5670000-5673800	Enhancers	Brain Hippocampus Middle	brain
44	chr7:5670200-5672600	Strong transcription	HepG2	liver
45	chr7:5670400-5672600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:5670400-5673200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:5670400-5674200	Weak transcription	A549	lung
48	chr7:5670400-5675800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr7:5670600-5672600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr7:5670600-5672600	Genic enhancers	Placenta	Placenta

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