Variant report

Variant	rs55721535
Chromosome Location	chr7:100030348-100030349
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:61)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:100025653-100032091	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:100029014-100032079	K562	blood:	n/a	n/a
3	POLR2A	chr7:100025712-100031084	GM12891	blood:	n/a	n/a
4	POLR2A	chr7:100030180-100034516	HepG2	liver:	n/a	n/a
5	POLR2A	chr7:100029754-100032137	U87	brain:	n/a	n/a
6	POLR2A	chr7:100029463-100032074	K562	blood:	n/a	n/a
7	HEY1	chr7:100029933-100030693	HepG2	liver:	n/a	n/a
8	MTA3	chr7:100030193-100034606	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:100030344-100031227	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:100025594-100032122	HL-60	blood:	n/a	n/a
11	POLR2A	chr7:100029738-100030798	U87	brain:	n/a	n/a
12	POLR2A	chr7:100029646-100033719	U87	brain:	n/a	n/a
13	POLR2A	chr7:100030040-100031127	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr7:100028835-100032148	U87	brain:	n/a	n/a
15	POLR2A	chr7:100025552-100034611	GM12892	blood:	n/a	n/a
16	POLR2A	chr7:100025673-100032037	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr7:100029333-100030759	HepG2	liver:	n/a	n/a
18	POLR2A	chr7:100029776-100031920	NB4	blood:	n/a	n/a
19	POLR2A	chr7:100028993-100031911	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr7:100025685-100034590	GM12892	blood:	n/a	n/a
21	POLR2A	chr7:100025716-100034505	K562	blood:	n/a	n/a
22	POLR2A	chr7:100025487-100032082	GM12878	blood:	n/a	n/a
23	POLR2A	chr7:100025714-100034420	Hela-S3	cervix:	n/a	n/a
24	NR2F2	chr7:100030271-100030954	MCF-7	breast:	n/a	n/a
25	POLR2A	chr7:100025516-100034612	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr7:100030299-100032132	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr7:100029881-100031262	HL-60	blood:	n/a	n/a
28	POLR2A	chr7:100025603-100032108	GM12892	blood:	n/a	n/a
29	POLR2A	chr7:100025670-100034884	K562	blood:	n/a	n/a
30	POLR2A	chr7:100025692-100032174	Hela-S3	cervix:	n/a	n/a
31	PML	chr7:100029478-100030382	K562	blood:	n/a	n/a
32	POLR2A	chr7:100030152-100030847	K562	blood:	n/a	n/a
33	POLR2A	chr7:100025784-100032130	K562	blood:	n/a	n/a
34	TFAP2C	chr7:100030325-100030898	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr7:100025555-100034612	GM12878	blood:	n/a	n/a
36	POLR2A	chr7:100028726-100034596	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr7:100025361-100032156	K562	blood:	n/a	n/a
38	JUN	chr7:100025368-100030576	K562	blood:	n/a	chr7:100025478-100025489 chr7:100026923-100026932
39	POLR2A	chr7:100029318-100034564	GM12891	blood:	n/a	n/a
40	POLR2A	chr7:100029667-100031980	HepG2	liver:	n/a	n/a
41	POLR2A	chr7:100030346-100034589	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr7:100025645-100032181	GM12891	blood:	n/a	n/a
43	POLR2A	chr7:100025731-100034623	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr7:100029242-100034507	K562	blood:	n/a	n/a
45	POLR2A	chr7:100028473-100034599	PANC-1	pancreas:	n/a	n/a
46	POLR2A	chr7:100029930-100032124	HCT-116	colon:	n/a	n/a
47	POLR2A	chr7:100030315-100032067	GM12892	blood:	n/a	n/a
48	POLR2A	chr7:100025471-100034582	PANC-1	pancreas:	n/a	n/a
49	POLR2A	chr7:100029930-100031203	A549	lung:	n/a	n/a
50	NFATC1	chr7:100029260-100031014	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100030314-100030364	GM12892	blood:	n/a
2	chr7:100030314-100030364	NHDF-neo	bronchial:	n/a
3	chr7:100030314-100030364	MCF-7	breast:	n/a
4	chr7:100030314-100030364	SK-N-SH_RA	brain:	n/a
5	chr7:100030314-100030364	HUVEC	blood vessel:	n/a
6	chr7:100030314-100030364	AG10803	skin:	n/a
7	chr7:100030314-100030364	HMEC	breast:	n/a
8	chr7:100030314-100030364	Jurkat	blood:	n/a
9	chr7:100030314-100030364	ovcar-3	ovarian:	n/a
10	chr7:100030314-100030364	PrEC	prostate:	n/a
11	chr7:100030314-100030364	A549	lung:	n/a
12	chr7:100030314-100030364	AoSMC	blood vessel:	n/a
13	chr7:100030314-100030364	HCM	heart:	n/a
14	chr7:100030314-100030364	Hela-S3	cervix:	n/a
15	chr7:100030314-100030364	GM06990	blood:	n/a
16	chr7:100030314-100030364	Hepatocyte	liver:	n/a
17	chr7:100030314-100030364	MCF10A-Er-Src	breast:	n/a
18	chr7:100030314-100030364	HRPEpiC	eye:	n/a
19	chr7:100030314-100030364	H1-hESC	embryonic stem cell:	embryo
20	chr7:100030314-100030364	NB4	blood:	n/a
21	chr7:100030314-100030364	HIPEpiC	eye:	n/a
22	chr7:100030314-100030364	HNPCEpiC	eye:	n/a
23	chr7:100030314-100030364	IMR90	lung:	fetal
24	chr7:100030314-100030364	Caco-2	colon:	n/a
25	chr7:100030314-100030364	GM12891	blood:	n/a
26	chr7:100030314-100030364	NT2-D1	testis:	n/a
27	chr7:100030314-100030364	ECC-1	luminal epithelium:	n/a
28	chr7:100030314-100030364	HRCEpiC	kidney:	n/a
29	chr7:100030314-100030364	NH-A	brain:	n/a
30	chr7:100030314-100030364	NHBE	bronchial:	n/a
31	chr7:100030314-100030364	SKMC	muscle:	n/a
32	chr7:100030314-100030364	GM12878	blood:	n/a
33	chr7:100030314-100030364	AG04449	skin:	fetal
34	chr7:100030314-100030364	SK-N-SH	brain:	n/a
35	chr7:100030314-100030364	PFSK-1	brain:	n/a
36	chr7:100030314-100030364	HEEpiC	esophagus:	n/a
37	chr7:100030314-100030364	K562	blood:	n/a
38	chr7:100030314-100030364	U87	brain:	n/a
39	chr7:100030314-100030364	HAEpiC	amniotic membrane:	n/a
40	chr7:100030314-100030364	HCT-116	colon:	n/a
41	chr7:100030314-100030364	BE2_C	brain:	n/a
42	chr7:100030314-100030364	T-47D	breast:	n/a
43	chr7:100030314-100030364	HEK293	kidney:	embryo
44	chr7:100030314-100030364	LNCaP	prostate:	n/a
45	chr7:100030314-100030364	SK-N-MC	brain:	n/a
46	chr7:100030314-100030364	HL-60	blood:	n/a
47	chr7:100030314-100030364	BJ	skin:	n/a
48	chr7:100030314-100030364	GM19239	blood:	n/a
49	chr7:100030314-100030364	AG09309	skin:	n/a
50	chr7:100030314-100030364	AG04450	lung:	fetal

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100027413..100031126-chr7:100286427..100288573,3	K562	blood:
2	chr7:100024700..100032514-chr7:100067180..100083143,31	K562	blood:
3	chr7:100024644..100031194-chr7:100062394..100068680,9	K562	blood:
4	chr7:99725647..99727632-chr7:100029408..100031803,2	K562	blood:
5	chr7:100001600..100003590-chr7:100030106..100032583,2	MCF-7	breast:
6	chr7:100029284..100032032-chr7:100471728..100474346,3	K562	blood:
7	chr7:99751745..99754646-chr7:100029582..100031827,2	K562	blood:
8	chr7:100028958..100031771-chr7:100471119..100473993,2	K562	blood:
9	chr7:99677946..99680070-chr7:100029323..100031669,2	K562	blood:
10	chr7:100029587..100032466-chr7:100040702..100044115,3	MCF-7	breast:
11	chr7:99696789..99700792-chr7:100024893..100031468,10	K562	blood:
12	chr7:100028517..100031533-chr7:100163483..100165827,3	K562	blood:
13	chr7:99998688..100005691-chr7:100025198..100032529,13	K562	blood:
14	chr7:100027673..100031185-chr7:100064421..100066672,3	K562	blood:
15	chr7:100028892..100031266-chr7:100270739..100273276,2	K562	blood:
16	chr7:100025583..100035841-chr7:100071553..100080023,19	MCF-7	breast:
17	chr7:100029136..100031029-chr7:100182809..100185342,2	K562	blood:
18	chr20:62494852..62496761-chr7:100029731..100032578,2	MCF-7	breast:
19	chr7:100018468..100021635-chr7:100028917..100032766,4	K562	blood:
20	chr7:99691882..99693394-chr7:100030103..100032798,2	K562	blood:
21	chr7:100024456..100030636-chr7:100180698..100187996,13	K562	blood:
22	chr7:100030256..100031765-chr7:100109016..100111307,2	K562	blood:
23	chr7:99722973..99724909-chr7:100026260..100030373,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000240211	TF binding region
ZCWPW1	TF binding region
ENSG00000241357	TF binding region
ENSG00000241357	CpG island
ZCWPW1	CpG island
ENSG00000240211	CpG island
ENSG00000242798	Chromatin interaction
ENSG00000214309	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000166526	Chromatin interaction
ENSG00000101150	Chromatin interaction
ENSG00000221838	Chromatin interaction
ENSG00000146826	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000146830	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000266154	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000266372	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000166925	Chromatin interaction
ENSG00000166508	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17317214	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73161753	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
4	nsv527107	chr7:100014711-100064719	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	269 gene(s)	inside rSNPs	diseases
5	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
6	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
7	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
8	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100027400-100033600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:100028200-100031200	Enhancers	Fetal Heart	heart
3	chr7:100028200-100033400	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr7:100028400-100030800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
5	chr7:100028400-100030800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:100028600-100030400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
7	chr7:100028600-100030400	Transcr. at gene 5' and 3'	K562	blood
8	chr7:100028600-100030800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
9	chr7:100028600-100030800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:100028600-100030800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:100028600-100031000	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
12	chr7:100028600-100031800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:100028600-100032400	Weak transcription	Small Intestine	intestine
14	chr7:100028600-100032600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:100028600-100032600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr7:100028600-100033600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:100028800-100030400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:100028800-100030400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:100028800-100030400	Genic enhancers	Primary monocytes fromperipheralblood	blood
20	chr7:100028800-100030400	Genic enhancers	Primary B cells from peripheral blood	blood
21	chr7:100028800-100030400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr7:100028800-100030400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:100028800-100030600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:100028800-100030600	Enhancers	Pancreas	Pancrea
25	chr7:100028800-100030600	Genic enhancers	HSMM	muscle
26	chr7:100028800-100030800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:100028800-100030800	Genic enhancers	Fetal Stomach	stomach
28	chr7:100028800-100032200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr7:100028800-100032400	Genic enhancers	H1 Cell Line	embryonic stem cell
30	chr7:100028800-100032400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
31	chr7:100028800-100032400	Genic enhancers	A549	lung
32	chr7:100028800-100032600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:100028800-100032600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:100028800-100032600	Genic enhancers	Primary T cells fromperipheralblood	blood
35	chr7:100028800-100032600	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr7:100028800-100033000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:100028800-100033000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:100028800-100033000	Genic enhancers	Placenta	Placenta
39	chr7:100028800-100033000	Genic enhancers	Spleen	Spleen
40	chr7:100029000-100030400	Enhancers	Brain Angular Gyrus	brain
41	chr7:100029000-100030600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:100029000-100030600	Genic enhancers	Fetal Lung	lung
43	chr7:100029000-100030800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:100029000-100030800	Genic enhancers	Primary B cells from cord blood	blood
45	chr7:100029000-100030800	Genic enhancers	Right Ventricle	heart
46	chr7:100029000-100030800	Weak transcription	HSMMtube	muscle
47	chr7:100029000-100031800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:100029000-100032200	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr7:100029000-100032600	Genic enhancers	Fetal Muscle Leg	muscle
50	chr7:100029000-100032600	Genic enhancers	Skeletal Muscle Female	skeletal muscle

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