Variant report

Variant	rs35241972
Chromosome Location	chr1:193070513-193070514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
2	chr1:193028409..193031041-chr1:193070333..193072234,3	MCF-7	breast:
3	chr1:193031360..193033147-chr1:193070247..193071933,2	K562	blood:

Variant related genes	Relation type
ENSG00000238754	Chromatin interaction
ENSG00000116747	Chromatin interaction
ENSG00000116750	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34084081	1.00[AMR][1000 genomes]
rs34147192	1.00[EUR][1000 genomes]
rs34353394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35057393	1.00[EUR][1000 genomes]
rs35070966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35358794	1.00[EUR][1000 genomes]
rs35995477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41306225	1.00[EUR][1000 genomes]
rs41310923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56055376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56300484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193047400-193071400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr1:193048200-193072600	Weak transcription	Stomach Mucosa	stomach
3	chr1:193048600-193073000	Weak transcription	Fetal Brain Male	brain
4	chr1:193050800-193072600	Weak transcription	Fetal Heart	heart
5	chr1:193052800-193072600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:193053000-193072200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:193053000-193073200	Weak transcription	Esophagus	oesophagus
8	chr1:193053400-193072000	Weak transcription	Psoas Muscle	Psoas
9	chr1:193053600-193072600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:193054200-193072600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:193054200-193072600	Weak transcription	Colonic Mucosa	Colon
12	chr1:193054200-193073000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:193054200-193073000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:193054400-193072600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:193054400-193072600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:193054600-193072400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:193054800-193073000	Weak transcription	Fetal Thymus	thymus
18	chr1:193055600-193071600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:193056200-193073200	Weak transcription	Brain Germinal Matrix	brain
20	chr1:193060600-193072200	Weak transcription	HMEC	breast
21	chr1:193061200-193071800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:193063200-193072200	Strong transcription	HSMM	muscle
23	chr1:193064000-193073200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:193064800-193071000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:193066000-193072600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:193066200-193073000	Weak transcription	Fetal Brain Female	brain
27	chr1:193067000-193071600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:193068200-193070800	Strong transcription	Primary hematopoietic stem cells	blood
29	chr1:193068800-193071600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:193069000-193072400	Weak transcription	A549	lung
31	chr1:193069200-193071800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:193069200-193072200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:193069200-193072200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:193069200-193072200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:193069200-193072600	Weak transcription	Brain Anterior Caudate	brain
36	chr1:193069200-193072800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr1:193069200-193073000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:193069200-193073000	Weak transcription	Aorta	Aorta
39	chr1:193069200-193073400	Weak transcription	Gastric	stomach
40	chr1:193069200-193073400	Weak transcription	Pancreas	Pancrea
41	chr1:193069400-193072000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:193069400-193072400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr1:193069400-193072400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:193069400-193072400	Weak transcription	NHLF	lung
45	chr1:193069400-193072600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:193069400-193072600	Weak transcription	Brain Substantia Nigra	brain
47	chr1:193069400-193072600	Weak transcription	HUVEC	blood vessel
48	chr1:193069400-193072600	Weak transcription	NHEK	skin
49	chr1:193069400-193073000	Weak transcription	Ovary	ovary
50	chr1:193069400-193073000	Weak transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links