Variant report

Variant	rs72683682
Chromosome Location	chr1:78172669-78172670
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	chr1:78172252..78174416-chr1:78179553..78181586,2	MCF-7	breast:
2	chr1:78170386..78172968-chr1:78178212..78180739,3	K562	blood:

Variant related genes	Relation type
ENSG00000077254	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11801808	0.83[EUR][1000 genomes]
rs11801836	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72683667	0.87[EUR][1000 genomes]
rs72683687	0.92[EUR][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	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
6	esv1796958	chr1:78138955-78267421	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv1798160	chr1:78149941-78267421	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78149600-78175000	Weak transcription	Gastric	stomach
2	chr1:78149600-78177800	Weak transcription	Spleen	Spleen
3	chr1:78149800-78173000	Weak transcription	Colonic Mucosa	Colon
4	chr1:78149800-78173800	Weak transcription	Aorta	Aorta
5	chr1:78149800-78178000	Weak transcription	Small Intestine	intestine
6	chr1:78150000-78172800	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:78150000-78173000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:78150000-78173000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:78150000-78173600	Weak transcription	Psoas Muscle	Psoas
10	chr1:78150000-78174000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:78150000-78175600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:78150200-78173400	Weak transcription	HMEC	breast
13	chr1:78150200-78175600	Weak transcription	Brain Substantia Nigra	brain
14	chr1:78150400-78174000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:78153400-78175600	Weak transcription	HepG2	liver
16	chr1:78153600-78173600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:78153800-78173000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:78153800-78173000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:78153800-78173800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:78153800-78173800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:78153800-78174600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:78153800-78175400	Weak transcription	NHEK	skin
23	chr1:78153800-78177000	Weak transcription	Right Ventricle	heart
24	chr1:78153800-78178000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:78154000-78173600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:78154000-78173800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:78154200-78172800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:78155800-78178000	Weak transcription	Pancreas	Pancrea
29	chr1:78159200-78172800	Weak transcription	NH-A	brain
30	chr1:78161000-78187400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr1:78161600-78178000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:78161800-78172800	Weak transcription	Osteobl	bone
33	chr1:78162600-78173000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:78162600-78174600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:78163600-78173200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:78164400-78173000	Weak transcription	Left Ventricle	heart
37	chr1:78165000-78173000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:78165800-78172800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:78165800-78173800	Weak transcription	Esophagus	oesophagus
40	chr1:78165800-78178000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:78166000-78173000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:78166200-78172800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:78166200-78172800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:78166200-78173000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:78166200-78173000	Weak transcription	Fetal Kidney	kidney
46	chr1:78166200-78173000	Weak transcription	Lung	lung
47	chr1:78166200-78173600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:78166200-78173600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:78166200-78173600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:78166200-78175000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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