Variant report

Variant	rs7524910
Chromosome Location	chr1:197879246-197879247
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr1:197877431-197889818	NT2-D1	testis:	n/a	n/a
2	POLR2A	chr1:197878073-197880121	H1-neurons	neurons:	n/a	n/a
3	SUZ12	chr1:197877495-197890009	H1-hESC	embryonic stem cell:	n/a	n/a
4	TEAD4	chr1:197879148-197879517	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:197878327-197880467	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197870937..197874822-chr1:197875641..197879662,5	K562	blood:

Variant related genes	Relation type
LHX9	TF binding region
ENSG00000203724	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16842118	0.86[ASN][1000 genomes]
rs4915574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72744974	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999662	chr1:197821769-197892803	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	esv2762214	chr1:197821769-197897496	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
3	nsv1004130	chr1:197822757-197879728	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197872400-197879400	Weak transcription	Pancreas	Pancrea
2	chr1:197877000-197880200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
3	chr1:197877400-197879400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
4	chr1:197877400-197881600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:197877600-197879400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
6	chr1:197877600-197879600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
7	chr1:197877600-197880200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:197877600-197880600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:197877600-197880600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
10	chr1:197877600-197883400	Bivalent Enhancer	Fetal Thymus	thymus
11	chr1:197877800-197879600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
12	chr1:197877800-197879800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr1:197877800-197880400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
14	chr1:197877800-197881000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr1:197877800-197881400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
16	chr1:197877800-197882800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:197878000-197879600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:197878000-197880600	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr1:197878200-197879800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr1:197878800-197879600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
21	chr1:197878800-197879800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
22	chr1:197878800-197882800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:197879000-197879600	Bivalent Enhancer	HSMMtube	muscle
24	chr1:197879000-197880000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
25	chr1:197879200-197879400	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:197879200-197879400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:197879200-197879400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
28	chr1:197879200-197879600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:197879200-197879600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
30	chr1:197879200-197879600	Bivalent Enhancer	HepG2	liver
31	chr1:197879200-197879800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:197879200-197879800	Bivalent Enhancer	Brain Germinal Matrix	brain
33	chr1:197879200-197879800	Enhancers	Dnd41	blood
34	chr1:197879200-197879800	Bivalent Enhancer	HUVEC	blood vessel
35	chr1:197879200-197880000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:197879200-197880000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
37	chr1:197879200-197880400	Bivalent Enhancer	Left Ventricle	heart
38	chr1:197879200-197880400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
39	chr1:197879200-197880800	Bivalent Enhancer	Liver	Liver
40	chr1:197879200-197881600	Bivalent Enhancer	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links