Variant report

Variant	rs74090686
Chromosome Location	chr1:78141153-78141154
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78139754..78141838-chr1:78469324..78471683,2	K562	blood:
2	chr1:78141014..78145002-chr1:78468106..78471508,4	K562	blood:
3	chr1:78133704..78136431-chr1:78139980..78143480,5	K562	blood:

Variant related genes	Relation type
ENSG00000162616	Chromatin interaction
ENSG00000273338	Chromatin interaction

Extended variants
information (count: 32 )
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]
rs60000721	1.00[AFR][1000 genomes];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]
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:7 , 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	esv3337461	chr1:78036000-78153859	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78099000-78147200	Weak transcription	Gastric	stomach
2	chr1:78107600-78146000	Weak transcription	Fetal Kidney	kidney
3	chr1:78111200-78147200	Weak transcription	Esophagus	oesophagus
4	chr1:78116800-78144600	Weak transcription	NHEK	skin
5	chr1:78117200-78144400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:78117400-78141800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:78117400-78147200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:78117600-78146000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:78117600-78147200	Weak transcription	Thymus	Thymus
10	chr1:78118600-78146000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr1:78119000-78145600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:78119000-78146000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:78119400-78147200	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:78120800-78147200	Weak transcription	Lung	lung
15	chr1:78124600-78146000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:78127000-78146400	Weak transcription	Primary B cells from cord blood	blood
17	chr1:78128800-78141800	Weak transcription	Fetal Intestine Small	intestine
18	chr1:78131000-78141800	Weak transcription	Fetal Stomach	stomach
19	chr1:78131000-78146800	Weak transcription	Fetal Brain Female	brain
20	chr1:78131800-78145000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:78132000-78144200	Weak transcription	Adipose Nuclei	Adipose
22	chr1:78132000-78147200	Weak transcription	Right Ventricle	heart
23	chr1:78132200-78141800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:78133800-78143600	Weak transcription	Fetal Intestine Large	intestine
25	chr1:78135000-78146800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:78136400-78147200	Weak transcription	Spleen	Spleen
27	chr1:78136800-78147200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:78137400-78143600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr1:78137600-78145000	Weak transcription	Small Intestine	intestine
30	chr1:78137800-78142200	Enhancers	NHDF-Ad	bronchial
31	chr1:78137800-78146000	Weak transcription	Fetal Lung	lung
32	chr1:78137800-78146800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:78138000-78141800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:78138000-78145800	Weak transcription	HMEC	breast
35	chr1:78138000-78147200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:78138200-78141600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:78138200-78141600	Enhancers	HSMM	muscle
38	chr1:78138200-78141800	Weak transcription	Fetal Thymus	thymus
39	chr1:78138200-78142200	Enhancers	Brain Anterior Caudate	brain
40	chr1:78138200-78143400	Weak transcription	Brain Germinal Matrix	brain
41	chr1:78138200-78144200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:78138200-78145200	Weak transcription	K562	blood
43	chr1:78138200-78146000	Weak transcription	NH-A	brain
44	chr1:78138200-78147000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:78138200-78147200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:78138400-78141400	Weak transcription	Hela-S3	cervix
47	chr1:78138400-78141600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:78138400-78143200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr1:78138400-78143600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr1:78138400-78143800	Weak transcription	HUVEC	blood vessel

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