Variant report

Variant	rs72624941
Chromosome Location	chr7:128046742-128046743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr7:128046385-128046905	MCF-7	breast:	n/a	n/a
2	SIN3A	chr7:128046464-128046805	H1-hESC	embryonic stem cell:	n/a	chr7:128046527-128046541
3	CUX1	chr7:128046512-128046910	K562	blood:	n/a	n/a
4	NR2F2	chr7:128046375-128047113	K562	blood:	n/a	n/a
5	TCF7L2	chr7:128046538-128046866	Hela-S3	cervix:	n/a	n/a
6	NR2F2	chr7:128046397-128046791	K562	blood:	n/a	n/a
7	MYC	chr7:128046691-128046802	MCF10A-Er-Src	breast:	n/a	n/a
8	MXI1	chr7:128044401-128046803	SK-N-SH	brain:	n/a	n/a

No data

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

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:

No data

Variant related genes	Relation type
IMPDH1	TF binding region
ENSG00000128524	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000106344	Chromatin interaction
ENSG00000242902	Chromatin interaction
ENSG00000238750	Chromatin interaction
ENSG00000273184	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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128045200-128047000	Active TSS	Fetal Kidney	kidney
2	chr7:128045400-128047200	Active TSS	Hela-S3	cervix
3	chr7:128045600-128046800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr7:128045600-128047000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:128045600-128047000	Active TSS	Fetal Brain Female	brain
6	chr7:128045600-128047600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:128045600-128048000	Weak transcription	Fetal Heart	heart
8	chr7:128045800-128047000	Active TSS	Stomach Smooth Muscle	stomach
9	chr7:128046000-128046800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:128046000-128046800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr7:128046000-128047000	Enhancers	Brain Substantia Nigra	brain
12	chr7:128046000-128047200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:128046000-128047400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:128046000-128047400	Weak transcription	Lung	lung
15	chr7:128046000-128047600	Enhancers	Primary hematopoietic stem cells	blood
16	chr7:128046000-128047600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:128046000-128048000	Weak transcription	NHLF	lung
18	chr7:128046000-128048800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr7:128046000-128048800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:128046000-128048800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:128046000-128048800	Weak transcription	NH-A	brain
22	chr7:128046000-128048800	Weak transcription	NHDF-Ad	bronchial
23	chr7:128046000-128049000	Weak transcription	Brain Angular Gyrus	brain
24	chr7:128046000-128049000	Enhancers	Fetal Lung	lung
25	chr7:128046000-128049200	Enhancers	Primary B cells from peripheral blood	blood
26	chr7:128046200-128046800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
27	chr7:128046200-128047000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:128046200-128047000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr7:128046200-128047200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:128046200-128047200	Weak transcription	Gastric	stomach
31	chr7:128046200-128047200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:128046200-128048800	Weak transcription	Small Intestine	intestine
33	chr7:128046400-128046800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
34	chr7:128046400-128046800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
35	chr7:128046400-128046800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:128046400-128046800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr7:128046400-128046800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:128046400-128046800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:128046400-128046800	Enhancers	Colonic Mucosa	Colon
40	chr7:128046400-128046800	Bivalent Enhancer	Fetal Intestine Large	intestine
41	chr7:128046400-128046800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr7:128046400-128046800	Flanking Active TSS	A549	lung
43	chr7:128046400-128047000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:128046400-128047000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:128046400-128047000	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr7:128046400-128047000	Bivalent Enhancer	Fetal Thymus	thymus
47	chr7:128046400-128047000	Weak transcription	Ovary	ovary
48	chr7:128046400-128047200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:128046400-128047200	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr7:128046400-128047200	Weak transcription	Right Ventricle	heart

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