Variant report

Variant	rs112164441
Chromosome Location	chr1:180661373-180661374
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180657321..180662997-chr1:180672435..180676141,5	K562	blood:
2	chr1:180659868..180662316-chr1:180673434..180676227,3	K562	blood:
3	chr1:180659367..180662219-chr1:180675558..180677595,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2754432	chr1:180645343-180692343	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	esv3379674	chr1:180661115-180661592	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180633200-180672000	Weak transcription	K562	blood
2	chr1:180640200-180662200	Weak transcription	Fetal Heart	heart
3	chr1:180641200-180662800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:180644000-180662600	Weak transcription	Left Ventricle	heart
5	chr1:180644000-180663800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:180646400-180662200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:180647400-180662600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:180648000-180663800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:180649000-180666200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:180650200-180665600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:180650200-180669800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:180652000-180672400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:180659000-180661800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:180659400-180661400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:180659400-180661400	Enhancers	Rectal Smooth Muscle	rectum
16	chr1:180659400-180661600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:180659600-180661600	Enhancers	Fetal Brain Female	brain
18	chr1:180659800-180661800	Enhancers	Fetal Brain Male	brain
19	chr1:180660400-180661600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr1:180660400-180661600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr1:180660400-180662400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr1:180660600-180661400	Enhancers	Brain Angular Gyrus	brain
23	chr1:180660600-180661400	Enhancers	Right Ventricle	heart
24	chr1:180660600-180661600	Enhancers	Fetal Lung	lung
25	chr1:180660800-180661600	Enhancers	Brain Germinal Matrix	brain
26	chr1:180660800-180662600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:180660800-180664200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr1:180661000-180662200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:180661000-180662200	Weak transcription	HUVEC	blood vessel
30	chr1:180661000-180663200	Weak transcription	Aorta	Aorta
31	chr1:180661200-180661400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr1:180661200-180661600	Enhancers	Colon Smooth Muscle	Colon
33	chr1:180661200-180662800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr1:180661200-180663200	Weak transcription	A549	lung

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