Variant report

Variant	rs73471988
Chromosome Location	chr7:129593180-129593181
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	CREB1	chr7:129591962-129593239	GM12878	blood:	n/a	chr7:129592820-129592833 chr7:129592806-129592819 chr7:129592820-129592833
2	SP1	chr7:129592576-129593186	A549	lung:	n/a	chr7:129592836-129592845 chr7:129592858-129592867 chr7:129592958-129592969 chr7:129592582-129592591 chr7:129592943-129592955 chr7:129592944-129592958 chr7:129592943-129592954 chr7:129592578-129592592 chr7:129592945-129592954 chr7:129592834-129592846 chr7:129592856-129592868 chr7:129592856-129592868 chr7:129592857-129592867
3	ATF2	chr7:129592457-129593193	GM12878	blood:	n/a	chr7:129592819-129592833 chr7:129592805-129592819 chr7:129592807-129592818
4	MYBL2	chr7:129592528-129593293	HepG2	liver:	n/a	n/a
5	HCFC1	chr7:129592239-129593309	K562	blood:	n/a	n/a
6	MTA3	chr7:129588689-129593264	GM12878	blood:	n/a	n/a
7	RELA	chr7:129592633-129593289	GM19099	blood:	n/a	chr7:129592880-129592889 chr7:129593150-129593159 chr7:129592880-129592889 chr7:129593150-129593159
8	CREB1	chr7:129591965-129593205	GM12878	blood:	n/a	chr7:129592820-129592833 chr7:129592806-129592819 chr7:129592820-129592833
9	SIX5	chr7:129592457-129593274	A549	lung:	n/a	chr7:129592903-129592912 chr7:129592901-129592910
10	NR2F2	chr7:129592564-129593343	K562	blood:	n/a	n/a
11	IRF1	chr7:129592605-129593285	K562	blood:	n/a	chr7:129592834-129592848
12	POLR2A	chr7:129591985-129593272	PBDE	blood:	n/a	n/a
13	CREB1	chr7:129592458-129593232	H1-hESC	embryonic stem cell:	n/a	chr7:129592820-129592833 chr7:129592806-129592819 chr7:129592820-129592833
14	NR2F2	chr7:129590973-129593329	K562	blood:	n/a	n/a
15	BHLHE40	chr7:129592145-129593232	K562	blood:	n/a	n/a
16	CHD2	chr7:129592047-129593201	GM12878	blood:	n/a	n/a
17	CREB1	chr7:129591794-129593364	K562	blood:	n/a	chr7:129592820-129592833 chr7:129592806-129592819 chr7:129592820-129592833
18	ZC3H11A	chr7:129592264-129593325	K562	blood:	n/a	n/a
19	SP1	chr7:129592568-129593364	H1-hESC	embryonic stem cell:	n/a	chr7:129592836-129592845 chr7:129592858-129592867 chr7:129592958-129592969 chr7:129592582-129592591 chr7:129592943-129592955 chr7:129592944-129592958 chr7:129592943-129592954 chr7:129592578-129592592 chr7:129592945-129592954 chr7:129592834-129592846 chr7:129592856-129592868 chr7:129592856-129592868 chr7:129592857-129592867
20	CREB1	chr7:129592140-129593437	K562	blood:	n/a	chr7:129592820-129592833 chr7:129592806-129592819 chr7:129592820-129592833
21	STAT5A	chr7:129592475-129593181	GM12878	blood:	n/a	chr7:129592578-129592590
22	STAT5A	chr7:129592436-129593382	K562	blood:	n/a	chr7:129592578-129592590
23	RELA	chr7:129591816-129593351	GM12891	blood:	n/a	chr7:129592880-129592889 chr7:129593150-129593159 chr7:129592880-129592889 chr7:129593150-129593159
24	SIN3AK20	chr7:129591767-129593200	MCF-7	breast:	n/a	n/a
25	SP1	chr7:129592484-129593213	A549	lung:	n/a	chr7:129592836-129592845 chr7:129592858-129592867 chr7:129592958-129592969 chr7:129592582-129592591 chr7:129592943-129592955 chr7:129592944-129592958 chr7:129592943-129592954 chr7:129592578-129592592 chr7:129592945-129592954 chr7:129592834-129592846 chr7:129592856-129592868 chr7:129592856-129592868 chr7:129592857-129592867
26	GATA1	chr7:129592350-129594080	PBDE	blood:	n/a	chr7:129593008-129593017 chr7:129593284-129593305
27	RCOR1	chr7:129591234-129593212	K562	blood:	n/a	n/a
28	JUND	chr7:129586819-129593622	SK-N-SH	brain:	n/a	chr7:129589371-129589383 chr7:129589371-129589382 chr7:129592822-129592831 chr7:129592808-129592817 chr7:129589107-129589118 chr7:129588334-129588342 chr7:129588333-129588343 chr7:129588333-129588343 chr7:129589373-129589381
29	JUN	chr7:129588260-129593475	K562	blood:	n/a	chr7:129589371-129589383 chr7:129592822-129592831 chr7:129592808-129592817 chr7:129589107-129589118 chr7:129588334-129588342 chr7:129592807-129592820 chr7:129588333-129588343 chr7:129588333-129588343 chr7:129592821-129592834 chr7:129589373-129589381
30	TEAD4	chr7:129591991-129593486	K562	blood:	n/a	n/a
31	ZNF143	chr7:129592619-129593188	H1-hESC	embryonic stem cell:	n/a	chr7:129592903-129592912 chr7:129592894-129592912 chr7:129592901-129592910 chr7:129592646-129592656
32	RELA	chr7:129591406-129593192	GM18951	blood:	n/a	chr7:129592880-129592889 chr7:129593150-129593159 chr7:129592880-129592889 chr7:129593150-129593159
33	REST	chr7:129588527-129593242	H1-neurons	neurons:	n/a	chr7:129590285-129590298 chr7:129592564-129592573
34	RAD21	chr7:129592581-129593339	H1-hESC	embryonic stem cell:	n/a	n/a
35	CBX3	chr7:129591963-129593350	K562	blood:	n/a	n/a
36	RUNX3	chr7:129591801-129593340	GM12878	blood:	n/a	chr7:129592506-129592523
37	BACH1	chr7:129592622-129593232	H1-hESC	embryonic stem cell:	n/a	n/a
38	EP300	chr7:129587451-129593634	SK-N-SH	brain:	n/a	chr7:129588688-129588702 chr7:129592865-129592874 chr7:129589432-129589445 chr7:129591093-129591107 chr7:129592906-129592920 chr7:129587603-129587617 chr7:129587516-129587526 chr7:129589989-129589998 chr7:129590804-129590817 chr7:129592472-129592481
39	TRIM28	chr7:129592450-129593404	K562	blood:	n/a	n/a
40	USF2	chr7:129592854-129593283	GM12878	blood:	n/a	n/a
41	JUN	chr7:129592589-129593325	K562	blood:	n/a	chr7:129592822-129592831 chr7:129592808-129592817 chr7:129592807-129592820 chr7:129592821-129592834
42	HCFC1	chr7:129590727-129593448	Hela-S3	cervix:	n/a	n/a
43	ZNF143	chr7:129592263-129593314	K562	blood:	n/a	chr7:129592471-129592481 chr7:129592903-129592912 chr7:129592597-129592607 chr7:129592894-129592912 chr7:129592901-129592910 chr7:129592646-129592656
44	MYBL2	chr7:129592605-129593219	HepG2	liver:	n/a	n/a
45	SIN3A	chr7:129590144-129593276	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAFK	chr7:129592767-129593340	K562	blood:	n/a	n/a
47	RFX5	chr7:129586524-129593512	SK-N-SH	brain:	n/a	chr7:129589159-129589168 chr7:129589157-129589173 chr7:129589156-129589170
48	CHD2	chr7:129592121-129593276	K562	blood:	n/a	n/a
49	RCOR1	chr7:129592630-129593330	K562	blood:	n/a	n/a
50	MAZ	chr7:129590955-129593253	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:129519608..129522150-chr7:129591816..129594617,2	K562	blood:
2	chr7:129589706..129593830-chr7:129648569..129652314,11	MCF-7	breast:
3	chr7:129592235..129594175-chr7:129648498..129651934,4	MCF-7	breast:
4	chr7:129592630..129594284-chr7:129646435..129649119,2	K562	blood:
5	chr7:129589344..129594008-chr7:129594437..129600591,9	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHDC10-2	chr7:129593074-129593320	ENSG00000244036.2

Variant related genes	Relation type
UBE2H	TF binding region
ENSG00000199516	TF binding region
ENSG00000186591	Chromatin interaction
ENSG00000199516	Chromatin interaction
ENSG00000244036	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs57085267	1.00[AMR][1000 genomes]
rs57351931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57534840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58432106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59326616	1.00[AMR][1000 genomes]
rs60013811	1.00[AMR][1000 genomes]
rs61192856	1.00[AMR][1000 genomes]
rs6960765	1.00[AMR][1000 genomes]
rs73469778	1.00[AMR][1000 genomes]
rs73469787	1.00[AMR][1000 genomes]
rs73469788	1.00[AMR][1000 genomes]
rs73469790	1.00[AMR][1000 genomes]
rs73469802	1.00[AMR][1000 genomes]
rs73471913	1.00[AMR][1000 genomes]
rs73471916	1.00[AMR][1000 genomes]
rs73471922	1.00[AMR][1000 genomes]
rs73471986	1.00[AMR][1000 genomes]
rs73471991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73472001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7808364	1.00[AMR][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	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129588800-129593200	Active TSS	Fetal Brain Female	brain
2	chr7:129589400-129593200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr7:129590400-129593200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr7:129590400-129593200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:129590400-129593400	Active TSS	Small Intestine	intestine
6	chr7:129591800-129593200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:129591800-129593200	Active TSS	Brain Substantia Nigra	brain
8	chr7:129592000-129593400	Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr7:129592400-129593200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:129592800-129593200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:129592800-129593200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr7:129592800-129593200	Enhancers	Duodenum Mucosa	Duodenum
13	chr7:129592800-129593200	Flanking Active TSS	Fetal Kidney	kidney
14	chr7:129592800-129593200	Weak transcription	Psoas Muscle	Psoas
15	chr7:129592800-129593200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr7:129592800-129593200	Flanking Active TSS	Dnd41	blood
17	chr7:129592800-129593200	Enhancers	GM12878-XiMat	blood
18	chr7:129592800-129593400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr7:129592800-129593400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:129592800-129593400	Enhancers	Colon Smooth Muscle	Colon
21	chr7:129592800-129593400	Enhancers	Fetal Thymus	thymus
22	chr7:129592800-129595400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr7:129592800-129595400	Weak transcription	HSMMtube	muscle
24	chr7:129592800-129595400	Weak transcription	NHDF-Ad	bronchial
25	chr7:129592800-129595600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr7:129592800-129598000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:129592800-129598400	Weak transcription	Right Atrium	heart
28	chr7:129592800-129598400	Weak transcription	NHLF	lung
29	chr7:129592800-129608600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:129593000-129593200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
31	chr7:129593000-129593200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:129593000-129593200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:129593000-129593200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr7:129593000-129593200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:129593000-129593200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr7:129593000-129593200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:129593000-129593200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr7:129593000-129593200	Enhancers	Primary B cells from cord blood	blood
39	chr7:129593000-129593200	Enhancers	Primary T cells from cord blood	blood
40	chr7:129593000-129593200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:129593000-129593200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr7:129593000-129593200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:129593000-129593200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr7:129593000-129593200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr7:129593000-129593200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:129593000-129593200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:129593000-129593200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:129593000-129593200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:129593000-129593200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr7:129593000-129593200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links