Variant report

Variant	rs139997765
Chromosome Location	chr7:128045695-128045696
allele	-/CCCAGCG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:144)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:144 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:128045569-128046378	HUVEC	blood vessel:	n/a	n/a
2	YY1	chr7:128045538-128046158	HepG2	liver:	n/a	chr7:128046007-128046016 chr7:128046144-128046158 chr7:128046143-128046152 chr7:128046019-128046033 chr7:128046085-128046094
3	MYC	chr7:128045216-128046209	A549	lung:	n/a	n/a
4	MAZ	chr7:128045015-128046571	Hela-S3	cervix:	n/a	n/a
5	CHD2	chr7:128045148-128045843	Hela-S3	cervix:	n/a	chr7:128045736-128045746
6	MAX	chr7:128044953-128046164	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr7:128045567-128046277	HUVEC	blood vessel:	n/a	n/a
8	E2F6	chr7:128045540-128046256	K562	blood:	n/a	n/a
9	MAX	chr7:128045164-128046311	HepG2	liver:	n/a	n/a
10	UBTF	chr7:128045624-128046201	K562	blood:	n/a	n/a
11	MAX	chr7:128045033-128046341	NB4	blood:	n/a	n/a
12	MYC	chr7:128045209-128046325	K562	blood:	n/a	n/a
13	POLR2A	chr7:128045590-128046041	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr7:128045600-128045750	GM12867	blood:	n/a	n/a
15	POLR2A	chr7:128045040-128046024	Hela-S3	cervix:	n/a	n/a
16	BHLHE40	chr7:128045540-128046289	K562	blood:	n/a	chr7:128045656-128045672 chr7:128046012-128046028
17	MAX	chr7:128044919-128046296	MCF-7	breast:	n/a	n/a
18	MAX	chr7:128044941-128046323	SK-N-SH	brain:	n/a	n/a
19	MAX	chr7:128045235-128046317	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr7:128045094-128045885	A549	lung:	n/a	n/a
21	MAZ	chr7:128045026-128046705	IMR90	lung:	n/a	n/a
22	MAX	chr7:128045216-128046316	K562	blood:	n/a	n/a
23	GABPA	chr7:128045505-128045705	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:128044942-128046060	Hela-S3	cervix:	n/a	n/a
25	MAX	chr7:128045231-128046325	H1-hESC	embryonic stem cell:	n/a	n/a
26	PML	chr7:128045359-128046006	GM12878	blood:	n/a	n/a
27	CHD2	chr7:128045293-128045892	GM12878	blood:	n/a	chr7:128045736-128045746
28	MYC	chr7:128045579-128045755	HUVEC	blood vessel:	n/a	n/a
29	RUNX3	chr7:128045467-128045891	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:128045103-128046140	GM18505	blood:	n/a	n/a
31	POLR2A	chr7:128044958-128046324	Raji	blood:	n/a	n/a
32	POLR2A	chr7:128045585-128046061	IMR90	lung:	n/a	n/a
33	GABPA	chr7:128045482-128045884	MCF-7	breast:	n/a	chr7:128045745-128045754
34	ELF1	chr7:128045182-128045805	K562	blood:	n/a	n/a
35	BACH1	chr7:128045522-128045877	H1-hESC	embryonic stem cell:	n/a	n/a
36	GABPA	chr7:128045500-128045746	H1-hESC	embryonic stem cell:	n/a	n/a
37	FOXP2	chr7:128045669-128046322	PFSK-1	brain:	n/a	n/a
38	POLR2A	chr7:128045580-128046231	HCT-116	colon:	n/a	n/a
39	MTA3	chr7:128044861-128045793	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:128045489-128046039	Hela-S3	cervix:	n/a	n/a
41	MAX	chr7:128044754-128046287	K562	blood:	n/a	n/a
42	ZBTB7A	chr7:128045087-128046327	K562	blood:	n/a	n/a
43	PAX5	chr7:128045596-128046288	GM12892	blood:	n/a	n/a
44	POLR2A	chr7:128044287-128046496	SK-N-MC	brain:	n/a	n/a
45	HEY1	chr7:128044991-128046162	K562	blood:	n/a	chr7:128046003-128046018 chr7:128046145-128046160 chr7:128045734-128045749
46	MYC	chr7:128045572-128046117	MCF-7	breast:	n/a	n/a
47	POLR2A	chr7:128045556-128046067	A549	lung:	n/a	n/a
48	ZEB1	chr7:128045493-128045793	GM12878	blood:	n/a	n/a
49	YY1	chr7:128045614-128046033	GM12878	blood:	n/a	chr7:128046007-128046016 chr7:128046019-128046033
50	BHLHE40	chr7:128045645-128045860	A549	lung:	n/a	chr7:128045656-128045672

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:128045684-128045734	HNPCEpiC	eye:	n/a
2	chr7:128045684-128045734	Caco-2	colon:	n/a
3	chr7:128045684-128045734	HRCEpiC	kidney:	n/a
4	chr7:128045684-128045734	GM12892	blood:	n/a
5	chr7:128045684-128045734	GM12878	blood:	n/a
6	chr7:128045684-128045734	K562	blood:	n/a
7	chr7:128045684-128045734	AG10803	skin:	n/a
8	chr7:128045684-128045734	HEK293	kidney:	embryo
9	chr7:128045684-128045734	NHDF-neo	bronchial:	n/a
10	chr7:128045684-128045734	CMK	blood:	n/a
11	chr7:128045684-128045734	AG04450	lung:	fetal
12	chr7:128045684-128045734	NB4	blood:	n/a
13	chr7:128045684-128045734	HPAEpiC	pulmonary alveolar:	n/a
14	chr7:128045684-128045734	Hela-S3	cervix:	n/a
15	chr7:128045684-128045734	GM19239	blood:	n/a
16	chr7:128045684-128045734	HMEC	breast:	n/a
17	chr7:128045684-128045734	HRPEpiC	eye:	n/a
18	chr7:128045684-128045734	HIPEpiC	eye:	n/a
19	chr7:128045684-128045734	H1-hESC	embryonic stem cell:	embryo
20	chr7:128045684-128045734	NHBE	bronchial:	n/a
21	chr7:128045684-128045734	ECC-1	luminal epithelium:	n/a
22	chr7:128045684-128045734	HCM	heart:	n/a
23	chr7:128045684-128045734	GM12891	blood:	n/a
24	chr7:128045684-128045734	HCT-116	colon:	n/a
25	chr7:128045684-128045734	MCF10A-Er-Src	breast:	n/a
26	chr7:128045684-128045734	RPTEC	kidney:	n/a
27	chr7:128045684-128045734	NH-A	brain:	n/a
28	chr7:128045684-128045734	HUVEC	blood vessel:	n/a
29	chr7:128045684-128045734	SK-N-MC	brain:	n/a
30	chr7:128045684-128045734	SK-N-SH	brain:	n/a
31	chr7:128045684-128045734	ovcar-3	ovarian:	n/a
32	chr7:128045684-128045734	AG04449	skin:	fetal
33	chr7:128045684-128045734	PrEC	prostate:	n/a
34	chr7:128045684-128045734	SAEC	small airway:	n/a
35	chr7:128045684-128045734	HAEpiC	amniotic membrane:	n/a
36	chr7:128045684-128045734	HRE	kidney:	n/a
37	chr7:128045684-128045734	A549	lung:	n/a
38	chr7:128045684-128045734	BE2_C	brain:	n/a
39	chr7:128045684-128045734	MCF-7	breast:	n/a
40	chr7:128045684-128045734	BJ	skin:	n/a
41	chr7:128045684-128045734	Hepatocyte	liver:	n/a
42	chr7:128045684-128045734	GM06990	blood:	n/a
43	chr7:128045684-128045734	AoSMC	blood vessel:	n/a
44	chr7:128045684-128045734	HL-60	blood:	n/a
45	chr7:128045684-128045734	SKMC	muscle:	n/a
46	chr7:128045684-128045734	PFSK-1	brain:	n/a
47	chr7:128045684-128045734	NT2-D1	testis:	n/a
48	chr7:128045684-128045734	AG09319	gingival:	n/a
49	chr7:128045684-128045734	T-47D	breast:	n/a
50	chr7:128045684-128045734	LNCaP	prostate:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:132201736..132202370-chr7:128045305..128046107,2	Hela-S3	cervix:
2	chr7:127981006..127985181-chr7:128044302..128047781,3	MCF-7	breast:
3	chr7:127980838..127984024-chr7:128045373..128047689,4	K562	blood:
4	chr7:128044227..128046158-chr7:128169736..128172586,2	K562	blood:
5	chr7:127981986..127985324-chr7:128043786..128047324,3	K562	blood:

No data

Variant related genes	Relation type
IMPDH1	TF binding region
IMPDH1	CpG island
ENSG00000242588	Chromatin interaction
ENSG00000164405	Chromatin interaction
ENSG00000273270	Chromatin interaction
ENSG00000238750	Chromatin interaction
ENSG00000106344	Chromatin interaction
ENSG00000164404	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv515737	chr7:128044035-128050417	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	esv3355278	chr7:128044741-128047289	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	esv3391700	chr7:128045116-128047314	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 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	chr7:128044200-128045800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr7:128044200-128045800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:128044200-128045800	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr7:128044200-128045800	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr7:128044200-128046000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:128044200-128046000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr7:128044400-128045800	Flanking Active TSS	K562	blood
8	chr7:128044600-128045800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:128044600-128045800	Flanking Active TSS	Fetal Muscle Leg	muscle
10	chr7:128044600-128045800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
11	chr7:128044600-128046000	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr7:128044600-128046400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:128044800-128045800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:128044800-128045800	Flanking Active TSS	Pancreas	Pancrea
15	chr7:128044800-128046400	Active TSS	HSMM	muscle
16	chr7:128045000-128045800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:128045000-128045800	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr7:128045000-128045800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr7:128045000-128045800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:128045000-128045800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:128045000-128045800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:128045000-128045800	Flanking Active TSS	Colonic Mucosa	Colon
23	chr7:128045000-128045800	Flanking Active TSS	Esophagus	oesophagus
24	chr7:128045000-128045800	Flanking Active TSS	Lung	lung
25	chr7:128045000-128045800	Flanking Active TSS	Right Ventricle	heart
26	chr7:128045000-128045800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr7:128045000-128046000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:128045000-128046000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:128045000-128046000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:128045000-128046000	Flanking Bivalent TSS/Enh	Dnd41	blood
31	chr7:128045000-128046400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr7:128045000-128046600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:128045000-128046600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
34	chr7:128045200-128045800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:128045200-128045800	Flanking Active TSS	Left Ventricle	heart
36	chr7:128045200-128046200	Active TSS	Gastric	stomach
37	chr7:128045200-128046200	Active TSS	Small Intestine	intestine
38	chr7:128045200-128046400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:128045200-128046400	Active TSS	Aorta	Aorta
40	chr7:128045200-128046400	Active TSS	Psoas Muscle	Psoas
41	chr7:128045200-128046400	Active TSS	HSMMtube	muscle
42	chr7:128045200-128046400	Active TSS	Osteobl	bone
43	chr7:128045200-128047000	Active TSS	Fetal Kidney	kidney
44	chr7:128045400-128045800	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr7:128045400-128045800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:128045400-128045800	Flanking Active TSS	Fetal Muscle Trunk	muscle
47	chr7:128045400-128045800	Active TSS	Stomach Mucosa	stomach
48	chr7:128045400-128046000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:128045400-128046000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr7:128045400-128046000	Active TSS	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links