Variant report

Variant	rs3823680
Chromosome Location	chr7:5671500-5671501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5670921..5673137-chr7:5680977..5682945,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2287595	0.90[YRI][hapmap]
rs35780366	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3807575	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807580	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs59086001	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59987579	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60889993	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959871	0.86[JPT][hapmap]
rs6971289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7795879	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs7804319	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7806110	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs852375	0.88[JPT][hapmap]
rs852376	0.88[JPT][hapmap]
rs852420	0.88[JPT][hapmap]
rs852441	0.88[JPT][hapmap]
rs852453	0.88[JPT][hapmap]
rs852468	0.88[JPT][hapmap]
rs852489	0.84[JPT][hapmap]
rs852516	0.88[JPT][hapmap]
rs8772	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9691118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[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	chr7:5665000-5671600	Weak transcription	Esophagus	oesophagus
13	chr7:5665000-5673200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:5665400-5673200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:5666000-5673600	Strong transcription	Fetal Intestine Small	intestine
16	chr7:5666200-5674200	Weak transcription	Primary B cells from cord blood	blood
17	chr7:5666800-5673200	Weak transcription	Brain Germinal Matrix	brain
18	chr7:5666800-5673600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:5667000-5673000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:5667000-5673000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:5667000-5674200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:5667600-5672600	Genic enhancers	Fetal Muscle Leg	muscle
23	chr7:5667600-5673000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:5667800-5672600	Strong transcription	Fetal Intestine Large	intestine
25	chr7:5667800-5673400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:5668000-5673200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:5668600-5675400	Weak transcription	Hela-S3	cervix
28	chr7:5668800-5671600	Enhancers	HMEC	breast
29	chr7:5669000-5671800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:5669200-5671600	Enhancers	Fetal Muscle Trunk	muscle
31	chr7:5669400-5672800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr7:5669400-5673200	Enhancers	NHDF-Ad	bronchial
33	chr7:5669400-5674200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr7:5669600-5671600	Enhancers	Osteobl	bone
35	chr7:5669600-5671800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:5669600-5671800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr7:5669600-5672000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:5669600-5672000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:5669600-5672000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr7:5669600-5672000	Enhancers	Fetal Thymus	thymus
41	chr7:5669600-5672000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr7:5669600-5672000	Genic enhancers	Stomach Smooth Muscle	stomach
43	chr7:5669600-5672200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
44	chr7:5669600-5672600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr7:5669600-5672600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr7:5669600-5672600	Genic enhancers	Spleen	Spleen
47	chr7:5669600-5672800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:5669600-5673800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:5669600-5674000	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr7:5669600-5674000	Enhancers	Brain Anterior Caudate	brain

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