Variant report

Variant	rs2585605
Chromosome Location	chr6:69349839-69349840
allele	C/T
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	CEBPB	chr6:69349762-69350313	K562	blood:	n/a	n/a
2	SIN3A	chr6:69349799-69350163	H1-hESC	embryonic stem cell:	n/a	n/a
3	SPI1	chr6:69349598-69349856	K562	blood:	n/a	chr6:69349736-69349743 chr6:69349733-69349746
4	RAD21	chr6:69347609-69351392	SK-N-SH	brain:	n/a	chr6:69348359-69348378 chr6:69348360-69348374
5	JUND	chr6:69349789-69350479	K562	blood:	n/a	chr6:69349987-69350001
6	EP300	chr6:69349623-69350444	K562	blood:	n/a	chr6:69349731-69349745 chr6:69349768-69349781 chr6:69350191-69350205
7	MAZ	chr6:69349778-69350694	K562	blood:	n/a	n/a
8	CEBPB	chr6:69349749-69350281	K562	blood:	n/a	n/a
9	RCOR1	chr6:69349072-69351403	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:69345191..69347323-chr6:69348007..69350174,2	K562	blood:
2	chr6:69349314..69351973-chr6:69416825..69419613,2	K562	blood:
3	chr6:69349831..69353456-chr6:69358636..69362534,5	K562	blood:
4	chr6:69348595..69350906-chr6:69368329..69371179,2	K562	blood:
5	chr6:69343483..69346125-chr6:69348729..69350654,3	K562	blood:
6	chr6:69348216..69350779-chr6:69363202..69365467,2	K562	blood:
7	chr6:69342697..69344588-chr6:69349205..69351203,2	K562	blood:
8	chr6:69346849..69353858-chr6:69356877..69365508,11	K562	blood:

Variant related genes	Relation type
ENSG00000230910	TF binding region
ENSG00000230910	Chromatin interaction
ENSG00000135298	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10945134	0.87[EUR][1000 genomes]
rs10945135	0.85[EUR][1000 genomes]
rs2248272	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2256337	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2585616	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2585618	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2585619	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2585620	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2802690	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2802699	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2802702	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2802703	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2802704	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2802705	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2802706	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2802710	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4554295	0.87[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	nsv886130	chr6:68950298-69531957	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv830680	chr6:69192214-69351103	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69342600-69351000	Active TSS	Brain Angular Gyrus	brain
2	chr6:69343200-69351200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr6:69343200-69352000	Active TSS	Brain Anterior Caudate	brain
4	chr6:69346800-69350000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:69348200-69350000	Enhancers	Fetal Lung	lung
6	chr6:69348600-69350400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:69348600-69352800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:69348800-69350600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:69349000-69350400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr6:69349000-69350800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:69349200-69350200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr6:69349200-69350200	Enhancers	Pancreas	Pancrea
13	chr6:69349200-69350400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr6:69349200-69350400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:69349200-69350800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr6:69349200-69351000	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr6:69349400-69350400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:69349400-69350800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr6:69349400-69351000	Flanking Active TSS	K562	blood
20	chr6:69349600-69350000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:69349600-69350000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:69349600-69350000	Enhancers	Aorta	Aorta
23	chr6:69349600-69350000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:69349600-69350200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr6:69349600-69350200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr6:69349600-69350200	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr6:69349600-69350200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
28	chr6:69349600-69350400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:69349600-69350400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:69349600-69350600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr6:69349600-69350600	Active TSS	Fetal Kidney	kidney
32	chr6:69349600-69350800	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr6:69349600-69350800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr6:69349600-69350800	Active TSS	Right Atrium	heart
35	chr6:69349600-69351600	Flanking Active TSS	Fetal Brain Female	brain
36	chr6:69349800-69350000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
37	chr6:69349800-69350000	Active TSS	Left Ventricle	heart
38	chr6:69349800-69350000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
39	chr6:69349800-69350000	Flanking Bivalent TSS/Enh	NH-A	brain
40	chr6:69349800-69350200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:69349800-69350200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr6:69349800-69350200	Active TSS	Duodenum Mucosa	Duodenum
43	chr6:69349800-69350200	Flanking Active TSS	Fetal Brain Male	brain
44	chr6:69349800-69350200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
45	chr6:69349800-69350400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chr6:69349800-69350400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
47	chr6:69349800-69350400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:69349800-69350400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:69349800-69350400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:69349800-69350400	Active TSS	Colonic Mucosa	Colon

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