Variant report

Variant	rs72624944
Chromosome Location	chr7:128046449-128046450
allele	A/C
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	EGR1	chr7:128045773-128046522	K562	blood:	n/a	chr7:128046141-128046154 chr7:128046138-128046152 chr7:128046139-128046149 chr7:128046182-128046191 chr7:128046283-128046296 chr7:128046282-128046297
2	MAZ	chr7:128045015-128046571	Hela-S3	cervix:	n/a	n/a
3	NR2F2	chr7:128046385-128046905	MCF-7	breast:	n/a	n/a
4	MAZ	chr7:128045026-128046705	IMR90	lung:	n/a	n/a
5	CTCF	chr7:128045723-128046506	K562	blood:	n/a	chr7:128046389-128046402
6	HDAC2	chr7:128046369-128046646	MCF-7	breast:	n/a	n/a
7	POLR2A	chr7:128044287-128046496	SK-N-MC	brain:	n/a	n/a
8	ZBTB7A	chr7:128046365-128046571	K562	blood:	n/a	n/a
9	TCF7L2	chr7:128045848-128046623	HCT-116	colon:	n/a	n/a
10	EGR1	chr7:128045810-128046562	K562	blood:	n/a	chr7:128046141-128046154 chr7:128046138-128046152 chr7:128046139-128046149 chr7:128046182-128046191 chr7:128046283-128046296 chr7:128046282-128046297
11	NR2F2	chr7:128046375-128047113	K562	blood:	n/a	n/a
12	MAZ	chr7:128045265-128046571	K562	blood:	n/a	n/a
13	NR2F2	chr7:128046397-128046791	K562	blood:	n/a	n/a
14	MXI1	chr7:128044401-128046803	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:127981006..127985181-chr7:128044302..128047781,3	MCF-7	breast:
2	chr7:127980838..127984024-chr7:128045373..128047689,4	K562	blood:
3	chr7:128046151..128047662-chr7:128095822..128097503,2	MCF-7	breast:
4	chr7:127981986..127985324-chr7:128043786..128047324,3	K562	blood:
5	chr7:128045908..128047608-chr7:128501715..128503909,2	K562	blood:

Variant related genes	Relation type
IMPDH1	TF binding region
ENSG00000242902	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000106344	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000128524	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000238750	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128045000-128046600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:128045000-128046600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr7:128045200-128047000	Active TSS	Fetal Kidney	kidney
4	chr7:128045400-128046600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr7:128045400-128046600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr7:128045400-128046600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr7:128045400-128046600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr7:128045400-128046600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:128045400-128046600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:128045400-128046600	Active TSS	Brain Anterior Caudate	brain
11	chr7:128045400-128046600	Active TSS	Right Atrium	heart
12	chr7:128045400-128046600	Active TSS	HepG2	liver
13	chr7:128045400-128047200	Active TSS	Hela-S3	cervix
14	chr7:128045600-128046600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr7:128045600-128046600	Active TSS	Primary T cells from cord blood	blood
16	chr7:128045600-128046600	Active TSS	Muscle Satellite Cultured Cells	--
17	chr7:128045600-128046600	Active TSS	Brain Hippocampus Middle	brain
18	chr7:128045600-128046600	Active TSS	Spleen	Spleen
19	chr7:128045600-128046600	Active TSS	HMEC	breast
20	chr7:128045600-128046600	Active TSS	NHEK	skin
21	chr7:128045600-128046800	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr7:128045600-128047000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:128045600-128047000	Active TSS	Fetal Brain Female	brain
24	chr7:128045600-128047600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:128045600-128048000	Weak transcription	Fetal Heart	heart
26	chr7:128045800-128046600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:128045800-128046600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr7:128045800-128046600	Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr7:128045800-128046600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:128045800-128046600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:128045800-128046600	Active TSS	Brain Germinal Matrix	brain
32	chr7:128045800-128047000	Active TSS	Stomach Smooth Muscle	stomach
33	chr7:128046000-128046600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:128046000-128046600	Enhancers	Liver	Liver
35	chr7:128046000-128046600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:128046000-128046600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:128046000-128046800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:128046000-128046800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr7:128046000-128047000	Enhancers	Brain Substantia Nigra	brain
40	chr7:128046000-128047200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:128046000-128047400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr7:128046000-128047400	Weak transcription	Lung	lung
43	chr7:128046000-128047600	Enhancers	Primary hematopoietic stem cells	blood
44	chr7:128046000-128047600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr7:128046000-128048000	Weak transcription	NHLF	lung
46	chr7:128046000-128048800	Enhancers	Primary T cells fromperipheralblood	blood
47	chr7:128046000-128048800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:128046000-128048800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr7:128046000-128048800	Weak transcription	NH-A	brain
50	chr7:128046000-128048800	Weak transcription	NHDF-Ad	bronchial

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