Variant report

Variant	rs1322769
Chromosome Location	chr1:173830992-173830993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:180)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:180 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:173830742-173838152	GM18951	blood:	n/a	n/a
2	POLR2A	chr1:173830604-173834319	HL-60	blood:	n/a	n/a
3	POLR2A	chr1:173829652-173834370	K562	blood:	n/a	n/a
4	PBX3	chr1:173830727-173831588	A549	lung:	n/a	n/a
5	POLR2A	chr1:173830537-173831150	A549	lung:	n/a	n/a
6	JUND	chr1:173830821-173831170	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:173828332-173838242	K562	blood:	n/a	n/a
8	PBX3	chr1:173830728-173832741	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr1:173830751-173831246	Gliobla	brain:	n/a	n/a
10	CEBPD	chr1:173830788-173832895	K562	blood:	n/a	n/a
11	POLR2A	chr1:173830799-173831075	MCF-7	breast:	n/a	n/a
12	ATF3	chr1:173830958-173832035	A549	lung:	n/a	n/a
13	FOSL2	chr1:173830851-173831422	A549	lung:	n/a	n/a
14	SIN3AK20	chr1:173830842-173831439	K562	blood:	n/a	n/a
15	SIN3AK20	chr1:173830744-173831539	A549	lung:	n/a	n/a
16	ATF2	chr1:173830850-173831447	GM12878	blood:	n/a	n/a
17	JUND	chr1:173830922-173831493	A549	lung:	n/a	n/a
18	POLR2A	chr1:173829381-173833686	GM12891	blood:	n/a	n/a
19	POLR2A	chr1:173825088-173838434	K562	blood:	n/a	n/a
20	POU2F2	chr1:173830712-173831456	GM12891	blood:	n/a	n/a
21	POLR2A	chr1:173827997-173836225	HepG2	liver:	n/a	n/a
22	POLR2A	chr1:173830571-173832892	GM12891	blood:	n/a	n/a
23	SIN3AK20	chr1:173830728-173831998	A549	lung:	n/a	n/a
24	POLR2A	chr1:173830687-173832742	Raji	blood:	n/a	n/a
25	CREB1	chr1:173830647-173831538	K562	blood:	n/a	n/a
26	POLR2A	chr1:173829861-173834161	K562	blood:	n/a	n/a
27	POLR2A	chr1:173829985-173833751	GM19193	blood:	n/a	n/a
28	ZBTB33	chr1:173830919-173831482	A549	lung:	n/a	n/a
29	POLR2A	chr1:173824570-173837689	A549	lung:	n/a	n/a
30	POLR2A	chr1:173830432-173831219	MCF-7	breast:	n/a	n/a
31	FOSL2	chr1:173830806-173831382	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr1:173828233-173834504	GM12892	blood:	n/a	n/a
33	POLR2A	chr1:173830753-173833030	HCT-116	colon:	n/a	n/a
34	JUND	chr1:173830702-173832980	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr1:173829284-173838362	K562	blood:	n/a	n/a
36	TCF3	chr1:173830782-173831135	GM12878	blood:	n/a	n/a
37	ZNF384	chr1:173830746-173831038	K562	blood:	n/a	n/a
38	POLR2A	chr1:173829132-173838052	PFSK-1	brain:	n/a	n/a
39	JUND	chr1:173830740-173831134	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr1:173829663-173838350	K562	blood:	n/a	n/a
41	POLR2A	chr1:173829737-173838261	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr1:173830877-173831024	HepG2	liver:	n/a	n/a
43	REST	chr1:173830937-173831425	A549	lung:	n/a	n/a
44	SP1	chr1:173830665-173831217	A549	lung:	n/a	n/a
45	POLR2A	chr1:173829767-173838193	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:173829946-173832856	NB4	blood:	n/a	n/a
47	BCLAF1	chr1:173830668-173832603	GM12878	blood:	n/a	chr1:173831994-173832003
48	POLR2A	chr1:173830780-173831089	HepG2	liver:	n/a	n/a
49	MTA3	chr1:173830550-173833227	GM12878	blood:	n/a	n/a
50	GTF2F1	chr1:173830929-173831255	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173829871..173833250-chr1:173884943..173888028,3	K562	blood:
2	chr1:173829121..173831364-chr1:173963945..173965806,2	MCF-7	breast:
3	chr1:173829567..173831571-chr1:173900129..173902507,2	K562	blood:
4	chr1:173828767..173831620-chr1:173909948..173912434,2	K562	blood:
5	chr1:173642158..173644054-chr1:173829177..173831512,2	K562	blood:
6	chr1:173789792..173811494-chr1:173827886..173840273,103	K562	blood:
7	chr1:173829761..173831898-chr1:173903649..173905478,2	K562	blood:
8	chr1:173682439..173685635-chr1:173828531..173832401,4	MCF-7	breast:
9	chr1:173830867..173831834-chr19:41257160..41257671,2	Hela-S3	cervix:
10	chr1:173829979..173831869-chr1:173877762..173880722,2	K562	blood:
11	chr1:173789473..173804179-chr1:173828884..173842109,95	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SERPINC1-1	chr1:173827684-173834420	NONHSAT007659

No data

Variant related genes	Relation type
GAS5-AS1	TF binding region
ENSG00000117593	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000077312	Chromatin interaction
ENSG00000117601	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000135870	Chromatin interaction
ENSG00000076321	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs16846397	1.00[AMR][1000 genomes]
rs16846483	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227620	1.00[AMR][1000 genomes]
rs57006357	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57343517	1.00[AMR][1000 genomes]
rs58576036	1.00[AMR][1000 genomes]
rs58930477	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59355797	1.00[AMR][1000 genomes]
rs59846661	1.00[AMR][1000 genomes]
rs6667627	1.00[AMR][1000 genomes]
rs6704413	1.00[AMR][1000 genomes]
rs73025612	1.00[AMR][1000 genomes]
rs73025620	1.00[AMR][1000 genomes]
rs73027407	1.00[AMR][1000 genomes]
rs73027443	1.00[AMR][1000 genomes]
rs73027460	1.00[AMR][1000 genomes]
rs73027463	1.00[AMR][1000 genomes]
rs73027464	1.00[AMR][1000 genomes]
rs73027488	1.00[AMR][1000 genomes]
rs73035116	1.00[AMR][1000 genomes]
rs73035134	1.00[AMR][1000 genomes]
rs73035139	1.00[AMR][1000 genomes]
rs73037076	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037083	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037097	1.00[AMR][1000 genomes]
rs73041050	1.00[AMR][1000 genomes]
rs73041059	1.00[AMR][1000 genomes]
rs7519571	1.00[AMR][1000 genomes]
rs7531236	1.00[AMR][1000 genomes]
rs7539992	1.00[AMR][1000 genomes]
rs7547873	1.00[AMR][1000 genomes]
rs9726181	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases
3	esv2757761	chr1:173810642-173955943	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
4	esv2758978	chr1:173810642-173955943	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	264 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	chr1:173794400-173832800	Weak transcription	Fetal Heart	heart
2	chr1:173794600-173832000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:173794600-173832000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:173794600-173832600	Weak transcription	Brain Substantia Nigra	brain
5	chr1:173794600-173833800	Weak transcription	Stomach Mucosa	stomach
6	chr1:173794800-173834000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:173795000-173834600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:173809800-173831800	Weak transcription	Colonic Mucosa	Colon
9	chr1:173813200-173831800	Weak transcription	Right Ventricle	heart
10	chr1:173813200-173832000	Weak transcription	Small Intestine	intestine
11	chr1:173813400-173831000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:173818200-173831600	Weak transcription	Fetal Brain Male	brain
13	chr1:173818600-173834800	Strong transcription	Fetal Muscle Leg	muscle
14	chr1:173818600-173834800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr1:173819200-173833200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:173819200-173833800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:173819200-173834000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:173819400-173832000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:173819400-173834800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:173819600-173834000	Strong transcription	Fetal Thymus	thymus
21	chr1:173819600-173835600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr1:173820600-173833800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:173820600-173834000	Strong transcription	Primary B cells from peripheral blood	blood
24	chr1:173821000-173834000	Strong transcription	Liver	Liver
25	chr1:173821000-173834000	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr1:173822000-173834000	Strong transcription	Fetal Intestine Large	intestine
27	chr1:173822400-173832600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:173822400-173833600	Strong transcription	Fetal Brain Female	brain
29	chr1:173822400-173833800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:173822800-173831000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:173822800-173831800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:173822800-173832400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:173822800-173832400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr1:173822800-173833400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:173822800-173834800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:173823000-173831600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:173823000-173831800	Weak transcription	NHLF	lung
38	chr1:173823000-173835000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr1:173823200-173833400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:173823400-173831400	Weak transcription	Pancreas	Pancrea
41	chr1:173823400-173832200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:173824600-173833800	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:173824800-173834600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr1:173825200-173832200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:173825400-173831000	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:173825600-173832000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:173825600-173832400	Weak transcription	Brain Angular Gyrus	brain
48	chr1:173826400-173831400	Weak transcription	Gastric	stomach
49	chr1:173826600-173831000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:173826800-173831000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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