Variant report

Variant	rs60000721
Chromosome Location	chr1:78155278-78155279
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78153418..78155756-chr1:78236442..78239366,2	K562	blood:
2	chr1:78147362..78150738-chr1:78154118..78156119,3	K562	blood:
3	chr1:78148636..78150222-chr1:78153007..78155635,3	MCF-7	breast:
4	chr1:78153612..78156248-chr1:78205840..78207802,2	K562	blood:
5	chr1:78155245..78156889-chr1:78160678..78162771,2	K562	blood:

Variant related genes	Relation type
ENSG00000036549	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs35178440	1.00[EUR][1000 genomes]
rs55872024	1.00[EUR][1000 genomes]
rs56010524	1.00[EUR][1000 genomes]
rs58120905	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59338720	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59883033	1.00[EUR][1000 genomes]
rs60658102	1.00[EUR][1000 genomes]
rs61553400	1.00[EUR][1000 genomes]
rs61655329	1.00[EUR][1000 genomes]
rs74090646	1.00[EUR][1000 genomes]
rs74090649	1.00[EUR][1000 genomes]
rs74090653	1.00[EUR][1000 genomes]
rs74090666	1.00[AFR][1000 genomes]
rs74090669	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74090673	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74090678	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74090686	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74092304	1.00[EUR][1000 genomes]
rs74092305	1.00[EUR][1000 genomes]
rs74092316	1.00[EUR][1000 genomes]
rs74092323	1.00[EUR][1000 genomes]
rs74092325	1.00[EUR][1000 genomes]
rs74092336	1.00[EUR][1000 genomes]
rs74092337	1.00[EUR][1000 genomes]
rs74092338	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv946004	chr1:78152199-78160377	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	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:115 , 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	chr1:78149800-78157400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:78149800-78157600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:78149800-78158800	Weak transcription	Left Ventricle	heart
6	chr1:78149800-78159800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr1:78149800-78165600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:78149800-78165600	Weak transcription	Esophagus	oesophagus
9	chr1:78149800-78165600	Weak transcription	Lung	lung
10	chr1:78149800-78171800	Weak transcription	Fetal Brain Male	brain
11	chr1:78149800-78173000	Weak transcription	Colonic Mucosa	Colon
12	chr1:78149800-78173800	Weak transcription	Aorta	Aorta
13	chr1:78149800-78178000	Weak transcription	Small Intestine	intestine
14	chr1:78150000-78158600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:78150000-78158800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:78150000-78158800	Weak transcription	Fetal Brain Female	brain
17	chr1:78150000-78160800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr1:78150000-78160800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:78150000-78161600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:78150000-78162000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:78150000-78163000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:78150000-78165200	Weak transcription	Brain Angular Gyrus	brain
23	chr1:78150000-78166000	Weak transcription	HSMMtube	muscle
24	chr1:78150000-78172800	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:78150000-78173000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:78150000-78173000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:78150000-78173600	Weak transcription	Psoas Muscle	Psoas
28	chr1:78150000-78174000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:78150000-78175600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:78150200-78157400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:78150200-78157600	Weak transcription	Osteobl	bone
32	chr1:78150200-78158000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:78150200-78158000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:78150200-78158800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:78150200-78158800	Weak transcription	HSMM	muscle
36	chr1:78150200-78159800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:78150200-78160800	Weak transcription	Brain Germinal Matrix	brain
38	chr1:78150200-78160800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:78150200-78161000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:78150200-78170400	Weak transcription	HUVEC	blood vessel
41	chr1:78150200-78172600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:78150200-78173400	Weak transcription	HMEC	breast
43	chr1:78150200-78175600	Weak transcription	Brain Substantia Nigra	brain
44	chr1:78150400-78157200	Weak transcription	Primary B cells from cord blood	blood
45	chr1:78150400-78157600	Weak transcription	Fetal Lung	lung
46	chr1:78150400-78159800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:78150400-78165000	Weak transcription	Brain Anterior Caudate	brain
48	chr1:78150400-78165600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:78150400-78172400	Weak transcription	Hela-S3	cervix
50	chr1:78150400-78174000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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