Variant report

Variant	rs10244881
Chromosome Location	chr7:101462051-101462052
allele	C/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	SMC3	chr7:101456662-101462457	SK-N-SH	brain:	n/a	chr7:101459988-101459995
2	SIN3A	chr7:101462010-101462122	H1-hESC	embryonic stem cell:	n/a	n/a
3	ARID3A	chr7:101461092-101462192	HepG2	liver:	n/a	n/a
4	ZNF143	chr7:101462049-101462270	H1-hESC	embryonic stem cell:	n/a	n/a
5	HNF4A	chr7:101461837-101462109	HepG2	liver:	n/a	chr7:101462005-101462018 chr7:101462006-101462019 chr7:101462005-101462018 chr7:101462005-101462020 chr7:101462005-101462019 chr7:101462005-101462018 chr7:101462006-101462018 chr7:101462003-101462021 chr7:101462005-101462020 chr7:101462006-101462018
6	HNF4G	chr7:101461849-101462137	HepG2	liver:	n/a	chr7:101462005-101462018 chr7:101462006-101462019 chr7:101462005-101462018 chr7:101462005-101462020 chr7:101462005-101462019 chr7:101462003-101462018 chr7:101462005-101462018 chr7:101462006-101462018 chr7:101462003-101462021 chr7:101462005-101462020 chr7:101462006-101462018
7	FOXA2	chr7:101461838-101462197	HepG2	liver:	n/a	n/a
8	IRF1	chr7:101461011-101462158	K562	blood:	n/a	chr7:101461870-101461884
9	WRNIP1	chr7:101462013-101462179	GM12878	blood:	n/a	n/a
10	FOXA1	chr7:101461927-101462173	HepG2	liver:	n/a	n/a
11	CHD1	chr7:101459801-101462372	IMR90	lung:	n/a	chr7:101460415-101460425
12	CTCF	chr7:101462020-101462170	MCF-7	breast:	n/a	n/a
13	FOXA1	chr7:101461947-101462250	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:101456865..101462678-chr7:101466062..101470276,9	MCF-7	breast:

Variant related genes	Relation type
CUX1	TF binding region
ENSG00000259294	Chromatin interaction

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

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

rs_ID	r²[population]
rs73712554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73712555	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1021797	chr7:101342353-101466957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv539046	chr7:101342353-101466957	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv824243	chr7:101445202-101479651	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv824244	chr7:101452564-101464341	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
10	nsv521041	chr7:101458144-101496391	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	esv3338355	chr7:101458232-101462630	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	22 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	chr7:101460200-101462200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr7:101460600-101462200	Flanking Active TSS	Dnd41	blood
3	chr7:101460800-101462200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr7:101460800-101462200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:101460800-101462200	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr7:101460800-101462200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:101461000-101462400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr7:101461000-101462400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:101461000-101462400	Enhancers	Fetal Brain Male	brain
10	chr7:101461000-101462600	Flanking Active TSS	K562	blood
11	chr7:101461000-101462800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr7:101461200-101462200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:101461200-101462200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr7:101461200-101462200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr7:101461200-101462200	Weak transcription	HMEC	breast
16	chr7:101461200-101462400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr7:101461200-101462400	Enhancers	Brain Anterior Caudate	brain
18	chr7:101461200-101462400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr7:101461200-101462400	Flanking Active TSS	Hela-S3	cervix
20	chr7:101461200-101462800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:101461200-101464600	Enhancers	Fetal Heart	heart
22	chr7:101461200-101466400	Weak transcription	Pancreas	Pancrea
23	chr7:101461200-101466800	Weak transcription	Brain Substantia Nigra	brain
24	chr7:101461200-101468600	Weak transcription	Spleen	Spleen
25	chr7:101461200-101469800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr7:101461200-101471800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:101461200-101475200	Weak transcription	Esophagus	oesophagus
28	chr7:101461200-101475400	Weak transcription	Colonic Mucosa	Colon
29	chr7:101461200-101475400	Weak transcription	Gastric	stomach
30	chr7:101461200-101486200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:101461400-101462200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr7:101461400-101462200	Flanking Active TSS	A549	lung
33	chr7:101461400-101462400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:101461400-101462400	Enhancers	Duodenum Mucosa	Duodenum
35	chr7:101461400-101462600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr7:101461400-101463000	Active TSS	Stomach Smooth Muscle	stomach
37	chr7:101461400-101463400	Enhancers	Brain Germinal Matrix	brain
38	chr7:101461400-101463400	Enhancers	Rectal Smooth Muscle	rectum
39	chr7:101461400-101463800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:101461400-101463800	Enhancers	NHEK	skin
41	chr7:101461400-101465400	Weak transcription	Psoas Muscle	Psoas
42	chr7:101461400-101466400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:101461400-101468400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr7:101461400-101468600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:101461400-101468600	Weak transcription	Ovary	ovary
46	chr7:101461400-101470600	Weak transcription	NHLF	lung
47	chr7:101461400-101471400	Weak transcription	Primary T cells from cord blood	blood
48	chr7:101461400-101473000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr7:101461600-101462200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:101461600-101462200	Weak transcription	Fetal Muscle Leg	muscle

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