Variant report

Variant	rs191822419
Chromosome Location	chr7:128044912-128044913
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	SMC3	chr7:128044843-128045293	Hela-S3	cervix:	n/a	chr7:128045135-128045145
2	ZNF263	chr7:128044906-128045624	HEK293-T-REx	kidney:	n/a	n/a
3	MTA3	chr7:128044861-128045793	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:128044835-128045183	MCF10A-Er-Src	breast:	n/a	n/a
5	MAX	chr7:128044754-128046287	K562	blood:	n/a	n/a
6	E2F4	chr7:128044740-128044927	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr7:128044287-128046496	SK-N-MC	brain:	n/a	n/a
8	EBF1	chr7:128044909-128045353	GM12878	blood:	n/a	n/a
9	MAX	chr7:128044792-128046305	A549	lung:	n/a	n/a
10	RCOR1	chr7:128044903-128045377	Hela-S3	cervix:	n/a	n/a
11	HCFC1	chr7:128044858-128046313	Hela-S3	cervix:	n/a	n/a
12	NR2F2	chr7:128044732-128045992	K562	blood:	n/a	n/a
13	ETS1	chr7:128044909-128046292	K562	blood:	n/a	chr7:128045418-128045428 chr7:128046146-128046157
14	MXI1	chr7:128044911-128046332	IMR90	lung:	n/a	n/a
15	NR2F2	chr7:128044327-128044917	MCF-7	breast:	n/a	n/a
16	POLR2A	chr7:128044904-128046380	Hela-S3	cervix:	n/a	n/a
17	ELF1	chr7:128044860-128046017	GM12878	blood:	n/a	n/a
18	MAX	chr7:128044759-128046319	HCT-116	colon:	n/a	n/a
19	MYC	chr7:128044894-128044947	GM12878	blood:	n/a	n/a
20	MXI1	chr7:128044401-128046803	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr7:128044881-128045352	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:127981006..127985181-chr7:128044302..128047781,3	MCF-7	breast:
2	chr7:128044227..128046158-chr7:128169736..128172586,2	K562	blood:
3	chr7:127981986..127985324-chr7:128043786..128047324,3	K562	blood:

Variant related genes	Relation type
IMPDH1	TF binding region
ENSG00000106344	Chromatin interaction
ENSG00000242588	Chromatin interaction
ENSG00000238750	Chromatin interaction
ENSG00000273270	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128028000-128045200	Weak transcription	Small Intestine	intestine
2	chr7:128038400-128045200	Weak transcription	Fetal Kidney	kidney
3	chr7:128041000-128045000	Weak transcription	Liver	Liver
4	chr7:128041200-128045000	Weak transcription	Brain Angular Gyrus	brain
5	chr7:128041400-128045000	Weak transcription	Aorta	Aorta
6	chr7:128041600-128045000	Weak transcription	Ovary	ovary
7	chr7:128041800-128045000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:128042200-128045000	Weak transcription	Brain Substantia Nigra	brain
9	chr7:128042800-128045000	Enhancers	Fetal Lung	lung
10	chr7:128043200-128045400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:128043600-128045000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:128043600-128045000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr7:128043600-128045000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:128043800-128045000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr7:128043800-128045000	Enhancers	Primary B cells from cord blood	blood
16	chr7:128043800-128045000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr7:128043800-128045000	Enhancers	Colon Smooth Muscle	Colon
18	chr7:128043800-128045000	Enhancers	Fetal Muscle Trunk	muscle
19	chr7:128043800-128045400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:128043800-128045400	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
21	chr7:128044000-128045000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr7:128044000-128045000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr7:128044000-128045000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr7:128044000-128045000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:128044000-128045400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:128044000-128045400	Flanking Active TSS	GM12878-XiMat	blood
27	chr7:128044000-128045600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
28	chr7:128044000-128045600	Flanking Active TSS	Fetal Brain Female	brain
29	chr7:128044200-128045000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
30	chr7:128044200-128045000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:128044200-128045000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:128044200-128045000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:128044200-128045000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr7:128044200-128045000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr7:128044200-128045000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:128044200-128045000	Enhancers	Colonic Mucosa	Colon
37	chr7:128044200-128045000	Enhancers	Esophagus	oesophagus
38	chr7:128044200-128045000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr7:128044200-128045000	Enhancers	Lung	lung
40	chr7:128044200-128045000	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr7:128044200-128045000	Genic enhancers	Spleen	Spleen
42	chr7:128044200-128045000	Flanking Active TSS	Dnd41	blood
43	chr7:128044200-128045200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:128044200-128045200	Enhancers	Primary B cells from peripheral blood	blood
45	chr7:128044200-128045200	Enhancers	Left Ventricle	heart
46	chr7:128044200-128045200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr7:128044200-128045400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:128044200-128045400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:128044200-128045400	Flanking Active TSS	Hela-S3	cervix
50	chr7:128044200-128045400	Flanking Active TSS	HepG2	liver

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