Variant report

Variant	rs73410227
Chromosome Location	chr6:36591359-36591360
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	MTA3	chr6:36590967-36592349	GM12878	blood:	n/a	n/a
2	RFX5	chr6:36591314-36591587	GM12878	blood:	n/a	n/a
3	CHD2	chr6:36591271-36591729	GM12878	blood:	n/a	n/a
4	CTCF	chr6:36591280-36591430	HMEC	breast:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
5	CTCF	chr6:36591251-36591529	MCF-7	breast:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
6	CTCF	chr6:36591300-36591450	HRPEpiC	eye:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
7	CTCF	chr6:36591320-36591470	WI-38	lung:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
8	STAT3	chr6:36591340-36591548	MCF10A-Er-Src	breast:	n/a	chr6:36591393-36591405
9	FOS	chr6:36591341-36591596	MCF10A-Er-Src	breast:	n/a	chr6:36591539-36591551
10	CTCF	chr6:36591280-36591430	GM12865	blood:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
11	CTCF	chr6:36591283-36591482	A549	lung:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
12	CTCF	chr6:36591320-36591470	AG09319	gingival:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
13	CTCF	chr6:36591255-36591533	Medullo	brain:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
14	ZNF384	chr6:36591268-36591510	K562	blood:	n/a	n/a
15	CTCF	chr6:36591278-36591485	GM10248	blood:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
16	CHD2	chr6:36591287-36591375	K562	blood:	n/a	n/a
17	ZNF143	chr6:36591194-36591547	K562	blood:	n/a	chr6:36591468-36591486
18	CTCF	chr6:36591080-36591708	K562	blood:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
19	CTCF	chr6:36591300-36591450	HCPEpiC	choroid plexus:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
20	USF2	chr6:36591211-36591494	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr6:36591340-36591490	GM12870	blood:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
22	RFX5	chr6:36591230-36591582	Hela-S3	cervix:	n/a	n/a
23	RAD21	chr6:36591010-36591580	A549	lung:	n/a	chr6:36591384-36591403
24	MTA3	chr6:36591155-36591597	GM12878	blood:	n/a	n/a
25	GTF2F1	chr6:36591235-36591538	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr6:36591156-36591598	MCF-7	breast:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
27	SIN3A	chr6:36591222-36591567	H1-hESC	embryonic stem cell:	n/a	n/a
28	JUN	chr6:36590598-36591706	K562	blood:	n/a	chr6:36591539-36591551
29	CTCF	chr6:36591320-36591470	HCM	heart:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
30	RAD21	chr6:36591245-36591472	K562	blood:	n/a	chr6:36591384-36591403
31	CTCF	chr6:36591300-36591450	HPAF	blood vessel:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
32	BHLHE40	chr6:36591134-36591468	K562	blood:	n/a	n/a
33	CTCF	chr6:36591280-36591430	K562	blood:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
34	CTCF	chr6:36591320-36591470	NHDF-neo	bronchial:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
35	MYBL2	chr6:36591125-36592110	HepG2	liver:	n/a	n/a
36	WRNIP1	chr6:36591290-36591633	GM12878	blood:	n/a	n/a
37	NFIC	chr6:36591197-36592043	GM12878	blood:	n/a	n/a
38	CTCF	chr6:36591300-36591450	HepG2	liver:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
39	CTCF	chr6:36591300-36591450	GM12865	blood:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
40	NFIC	chr6:36590904-36591655	SK-N-SH	brain:	n/a	n/a
41	CTCF	chr6:36591252-36591524	Hela-S3	cervix:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
42	CTCF	chr6:36591237-36591544	T-47D	breast:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
43	MXI1	chr6:36591262-36591518	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr6:36591268-36591507	H1-hESC	embryonic stem cell:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
45	CTCF	chr6:36591300-36591450	HEEpiC	esophagus:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
46	RCOR1	chr6:36591079-36591932	IMR90	lung:	n/a	n/a
47	CTCF	chr6:36591228-36591571	GM12878	blood:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
48	RAD21	chr6:36591211-36591616	HepG2	liver:	n/a	chr6:36591384-36591403
49	ZNF143	chr6:36591209-36591577	GM12878	blood:	n/a	chr6:36591468-36591486
50	TBP	chr6:36591266-36591484	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:36590930..36591805-chr6:36726654..36727603,2	MCF-7	breast:
2	chr10:8098923..8100872-chr6:36590438..36592818,2	MCF-7	breast:
3	chr6:36590940..36591484-chr6:36690008..36690968,2	K562	blood:
4	chr6:36588192..36591183-chr6:36591330..36594102,4	MCF-7	breast:
5	chr6:36590906..36591946-chr6:36647029..36648637,8	MCF-7	breast:
6	chr6:36590496..36591436-chr6:36646381..36646968,2	MCF-7	breast:
7	chr6:36583476..36586327-chr6:36590404..36592946,3	K562	blood:
8	chr6:36590968..36593681-chr6:36692597..36695208,2	MCF-7	breast:
9	chr6:36590778..36592536-chr6:36722666..36725629,2	MCF-7	breast:
10	chr6:36591006..36591734-chr6:36692485..36693014,2	MCF-7	breast:
11	chr6:36590922..36591850-chr6:36647865..36648817,7	MCF-7	breast:
12	chr6:36590960..36591893-chr6:36725819..36727563,13	K562	blood:
13	chr6:36589971..36596625-chr6:36645571..36650576,10	K562	blood:
14	chr6:36591305..36591878-chr6:36692059..36693073,8	K562	blood:
15	chr6:36590724..36591717-chr6:36986052..36986604,2	K562	blood:
16	chr6:36589213..36595227-chr6:36645571..36651666,9	K562	blood:
17	chr6:36591348..36591899-chr6:36668578..36669604,3	K562	blood:
18	chr6:36581224..36597272-chr6:36642199..36659412,120	MCF-7	breast:
19	chr6:36590919..36591472-chr6:36727065..36727610,2	MCF-7	breast:
20	chr6:36590882..36591428-chr6:36669194..36670304,3	MCF-7	breast:
21	chr6:36581748..36603537-chr6:36641861..36652365,77	MCF-7	breast:
22	chr6:36590986..36591856-chr6:36647878..36648875,10	K562	blood:

Variant related genes	Relation type
MIR3925	TF binding region
ENSG00000124762	Chromatin interaction
ENSG00000107485	Chromatin interaction
ENSG00000263894	Chromatin interaction
ENSG00000124772	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11552549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17553386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3087654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56799886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56814071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56845418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56900755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56900950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58073599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59274016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59569857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59715484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61631302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62402215	0.86[ASN][1000 genomes]
rs73408319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408360	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73408367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408370	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408373	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410218	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410228	0.91[AFR][1000 genomes]
rs73410230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410240	0.92[EUR][1000 genomes]
rs73410246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
2	nsv1031191	chr6:36588974-36718015	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv538201	chr6:36588974-36718015	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36577400-36595200	Weak transcription	Psoas Muscle	Psoas
2	chr6:36577800-36595200	Weak transcription	Small Intestine	intestine
3	chr6:36580200-36599200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:36580400-36593000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:36581400-36604400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:36582200-36595400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:36582800-36610800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:36584600-36591400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:36585200-36591400	Weak transcription	Gastric	stomach
10	chr6:36585400-36592800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:36585600-36592200	Weak transcription	Fetal Brain Female	brain
12	chr6:36586800-36593000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:36587000-36592600	Weak transcription	Aorta	Aorta
14	chr6:36587000-36597000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:36587600-36591400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:36588800-36595400	Enhancers	Duodenum Mucosa	Duodenum
17	chr6:36589400-36592400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr6:36590200-36591400	Enhancers	GM12878-XiMat	blood
19	chr6:36590200-36591600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr6:36590200-36592000	Enhancers	Fetal Heart	heart
21	chr6:36590200-36592000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr6:36590200-36593400	Enhancers	Adipose Nuclei	Adipose
23	chr6:36590400-36591600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr6:36590400-36592000	Enhancers	A549	lung
25	chr6:36590400-36592200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:36590400-36592400	Enhancers	Primary B cells from cord blood	blood
27	chr6:36590400-36593600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr6:36590400-36593600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr6:36590600-36591600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr6:36590600-36591600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:36590600-36592000	Enhancers	Placenta	Placenta
32	chr6:36590600-36592200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:36590600-36592200	Enhancers	Fetal Thymus	thymus
34	chr6:36590600-36592200	Enhancers	HSMM	muscle
35	chr6:36590600-36592400	Enhancers	Primary B cells from peripheral blood	blood
36	chr6:36590600-36593200	Enhancers	Colonic Mucosa	Colon
37	chr6:36590600-36593400	Enhancers	Fetal Intestine Large	intestine
38	chr6:36590600-36593400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr6:36590600-36593600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:36590600-36596000	Enhancers	Fetal Muscle Leg	muscle
41	chr6:36590800-36591400	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr6:36590800-36591400	Enhancers	Stomach Smooth Muscle	stomach
43	chr6:36590800-36591600	Enhancers	Primary T cells fromperipheralblood	blood
44	chr6:36590800-36591600	Enhancers	Primary hematopoietic stem cells	blood
45	chr6:36590800-36591600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:36590800-36591600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:36590800-36591600	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr6:36590800-36591800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:36590800-36591800	Enhancers	Esophagus	oesophagus
50	chr6:36590800-36591800	Enhancers	Right Atrium	heart

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