Variant report

Variant	rs10246972
Chromosome Location	chr7:140399214-140399215
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	POLR2A	chr7:140399083-140399840	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:140370275..140375389-chr7:140393210..140401279,16	MCF-7	breast:
2	chr7:140394719..140399884-chr7:140712014..140716961,9	K562	blood:
3	chr7:140395386..140400852-chr7:140710628..140716984,11	MCF-7	breast:

Variant related genes	Relation type
NDUFB2-AS1	TF binding region
NDUFB2	TF binding region
ENSG00000133597	Chromatin interaction
ENSG00000090263	Chromatin interaction
ENSG00000146966	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10226979	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10244409	1.00[AMR][1000 genomes]
rs10245724	1.00[AMR][1000 genomes]
rs10246057	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10247224	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255836	1.00[AMR][1000 genomes]
rs269253	1.00[AMR][1000 genomes]
rs269254	1.00[AMR][1000 genomes]
rs269262	1.00[AMR][1000 genomes]
rs28688297	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv3351231	chr7:140390303-140588539	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv831158	chr7:140392222-140602315	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr7:140397600-140407400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:140397800-140399600	Enhancers	Primary T cells fromperipheralblood	blood
3	chr7:140397800-140403200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:140397800-140405800	Weak transcription	Aorta	Aorta
5	chr7:140397800-140406800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:140398000-140399400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:140398000-140399600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr7:140398000-140399600	Enhancers	Fetal Heart	heart
9	chr7:140398000-140399600	Enhancers	Left Ventricle	heart
10	chr7:140398000-140399800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:140398000-140399800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr7:140398000-140399800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr7:140398000-140399800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr7:140398000-140402400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:140398000-140402800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:140398000-140404000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:140398000-140404000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:140398000-140404000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:140398000-140406000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:140398000-140406800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:140398000-140408800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:140398000-140419400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr7:140398000-140466600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:140398200-140399400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:140398200-140399400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:140398200-140399600	Enhancers	Right Atrium	heart
27	chr7:140398200-140399800	Enhancers	HepG2	liver
28	chr7:140398200-140401200	Weak transcription	Liver	Liver
29	chr7:140398200-140402400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:140398200-140402400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:140398200-140402400	Weak transcription	A549	lung
32	chr7:140398200-140402600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr7:140398200-140402600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:140398200-140402600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:140398200-140402600	Weak transcription	Thymus	Thymus
36	chr7:140398200-140402600	Weak transcription	HSMMtube	muscle
37	chr7:140398200-140402600	Weak transcription	HUVEC	blood vessel
38	chr7:140398200-140403400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr7:140398200-140403800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr7:140398200-140403800	Weak transcription	Osteobl	bone
41	chr7:140398200-140404000	Weak transcription	Lung	lung
42	chr7:140398200-140406000	Weak transcription	Fetal Lung	lung
43	chr7:140398200-140406000	Weak transcription	HSMM	muscle
44	chr7:140398200-140473800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr7:140398200-140492600	Weak transcription	Colonic Mucosa	Colon
46	chr7:140398400-140399600	Enhancers	Brain Anterior Caudate	brain
47	chr7:140398400-140399600	Enhancers	GM12878-XiMat	blood
48	chr7:140398400-140402200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:140398400-140402400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:140398400-140402600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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