Variant report

Variant	rs2240821
Chromosome Location	chr7:139479425-139479426
allele	A/G
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	chr7:139479228-139479461	HepG2	liver:	n/a	n/a
2	MAZ	chr7:139476227-139479595	IMR90	lung:	n/a	chr7:139477444-139477453 chr7:139477485-139477495 chr7:139477257-139477267

No.	Distal block	Cell Line	Cell type
1	chr7:139476813..139479584-chr7:139529025..139531896,2	MCF-7	breast:
2	chr7:139478498..139480107-chr7:139674216..139675922,2	K562	blood:
3	chr7:139479210..139481182-chr7:139491846..139493959,3	K562	blood:

Variant related genes	Relation type
HIPK2	TF binding region
ENSG00000059377	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57058283	1.00[AFR][1000 genomes]
rs8192812	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139478600-139483000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:139478600-139483400	Weak transcription	Gastric	stomach
3	chr7:139478600-139485600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:139478800-139479600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr7:139478800-139479800	Enhancers	NHEK	skin
6	chr7:139478800-139480400	Weak transcription	Left Ventricle	heart
7	chr7:139478800-139482600	Enhancers	Esophagus	oesophagus
8	chr7:139478800-139483000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:139478800-139485600	Weak transcription	Aorta	Aorta
10	chr7:139479000-139479600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:139479000-139479600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:139479000-139479600	Bivalent Enhancer	K562	blood
13	chr7:139479000-139479600	Enhancers	NHLF	lung
14	chr7:139479000-139479800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:139479000-139479800	Enhancers	HMEC	breast
16	chr7:139479000-139482400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:139479000-139497400	Weak transcription	NH-A	brain
18	chr7:139479200-139479600	Weak transcription	Right Atrium	heart
19	chr7:139479200-139480200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:139479200-139480600	Weak transcription	Adipose Nuclei	Adipose
21	chr7:139479200-139480800	Weak transcription	HepG2	liver
22	chr7:139479200-139481800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:139479200-139483000	Weak transcription	Liver	Liver
24	chr7:139479200-139483000	Weak transcription	Brain Substantia Nigra	brain
25	chr7:139479200-139483000	Weak transcription	Fetal Kidney	kidney
26	chr7:139479200-139483200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:139479200-139483200	Weak transcription	Stomach Mucosa	stomach
28	chr7:139479200-139483200	Weak transcription	A549	lung
29	chr7:139479200-139483400	Weak transcription	Brain Anterior Caudate	brain
30	chr7:139479400-139479600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:139479400-139479600	Bivalent/Poised TSS	Primary B cells from cord blood	blood
32	chr7:139479400-139479800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:139479400-139482000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:139479400-139483000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr7:139479400-139483200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:139479400-139483400	Weak transcription	Rectal Mucosa Donor 31	rectum

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