Variant report

Variant	rs74127015
Chromosome Location	chr1:150783949-150783950
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SRF	chr1:150783262-150784013	MCF-7	breast:	n/a	n/a
2	KAP1	chr1:150783266-150784176	U2OS	brain:	n/a	n/a
3	KAP1	chr1:150783169-150784032	HEK293	kidney:	n/a	n/a
4	POLR2A	chr1:150783915-150784010	HepG2	liver:	n/a	n/a
5	GATA3	chr1:150783174-150784476	MCF-7	breast:	n/a	n/a
6	GATA3	chr1:150783186-150784211	MCF-7	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150533359..150535631-chr1:150783020..150785029,2	MCF-7	breast:
2	chr1:150593699..150596030-chr1:150782553..150785002,2	MCF-7	breast:
3	chr1:150539334..150542207-chr1:150782861..150785483,3	K562	blood:
4	chr1:150669609..150671897-chr1:150782631..150785278,2	K562	blood:
5	chr1:150550164..150555275-chr1:150782862..150788394,7	MCF-7	breast:
6	chr1:150539334..150542207-chr1:150782861..150785483,4	K562	blood:
7	chr1:150541068..150543628-chr1:150783525..150786883,3	MCF-7	breast:

No data

Variant related genes	Relation type
CTSK	TF binding region
ENSG00000143384	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143457	Chromatin interaction
ENSG00000264508	Chromatin interaction
ENSG00000264584	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10305650	0.87[AMR][1000 genomes]
rs10305693	1.00[ASN][1000 genomes]
rs10305698	1.00[ASN][1000 genomes]
rs10305702	1.00[ASN][1000 genomes]
rs10305725	1.00[ASN][1000 genomes]
rs10305728	1.00[ASN][1000 genomes]
rs10305740	1.00[ASN][1000 genomes]
rs10305741	1.00[ASN][1000 genomes]
rs10305751	1.00[ASN][1000 genomes]
rs12119250	1.00[ASN][1000 genomes]
rs12139770	1.00[ASN][1000 genomes]
rs34053871	1.00[ASN][1000 genomes]
rs34355066	1.00[ASN][1000 genomes]
rs34645101	1.00[ASN][1000 genomes]
rs41266595	1.00[ASN][1000 genomes]
rs41266603	1.00[ASN][1000 genomes]
rs41266901	1.00[ASN][1000 genomes]
rs41266927	1.00[ASN][1000 genomes]
rs41272021	1.00[ASN][1000 genomes]
rs41272023	1.00[ASN][1000 genomes]
rs41317523	1.00[ASN][1000 genomes]
rs55772167	1.00[ASN][1000 genomes]
rs6660291	1.00[ASN][1000 genomes]
rs6672493	1.00[ASN][1000 genomes]
rs72700822	1.00[ASN][1000 genomes]
rs7550234	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers 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	38 gene(s)	inside rSNPs	diseases
2	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv437169	chr1:150738197-150816886	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	nsv2788	chr1:150755334-150800785	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150765400-150793600	Weak transcription	Fetal Heart	heart
2	chr1:150768200-150784000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:150769400-150785200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:150771200-150784600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:150771200-150785400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:150771600-150785200	Weak transcription	Pancreas	Pancrea
7	chr1:150772600-150785200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:150775800-150784600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:150777800-150784600	Weak transcription	Hela-S3	cervix
10	chr1:150779200-150784000	Weak transcription	Gastric	stomach
11	chr1:150779200-150790600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:150780400-150784200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:150780400-150784400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:150780400-150784600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:150780600-150788600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:150780800-150784600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:150780800-150785400	Weak transcription	Colonic Mucosa	Colon
18	chr1:150780800-150788800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:150781000-150784200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:150781000-150784200	Weak transcription	Esophagus	oesophagus
21	chr1:150781000-150784600	Weak transcription	Fetal Intestine Small	intestine
22	chr1:150781000-150785000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr1:150781000-150785200	Weak transcription	Fetal Brain Male	brain
24	chr1:150781000-150785800	Weak transcription	Right Atrium	heart
25	chr1:150781200-150784000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:150781200-150785200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:150781400-150788600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:150781600-150784600	Weak transcription	Ovary	ovary
29	chr1:150781600-150787000	Strong transcription	Fetal Muscle Trunk	muscle
30	chr1:150782000-150784200	Weak transcription	Fetal Stomach	stomach
31	chr1:150782200-150785200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr1:150782200-150785400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr1:150782200-150787600	Strong transcription	Left Ventricle	heart
34	chr1:150782200-150791200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:150782200-150791400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:150782200-150795800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:150782200-150809600	Strong transcription	Fetal Muscle Leg	muscle
38	chr1:150782200-150809800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr1:150782200-150813000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:150782400-150784600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:150782400-150785400	Strong transcription	Liver	Liver
42	chr1:150782400-150786800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:150782400-150789800	Strong transcription	Lung	lung
44	chr1:150782400-150812200	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr1:150782600-150785600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:150782600-150787600	Strong transcription	Primary B cells from cord blood	blood
47	chr1:150782600-150796600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:150782600-150802800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:150782800-150784000	Genic enhancers	K562	blood
50	chr1:150782800-150788400	Weak transcription	HMEC	breast

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