Variant report

Variant	rs12673463
Chromosome Location	chr7:26403242-26403243
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	FOXA2	chr7:26403066-26403414	HepG2	liver:	n/a	n/a
2	SIN3AK20	chr7:26403184-26403979	MCF-7	breast:	n/a	n/a
3	EP300	chr7:26402954-26403418	HepG2	liver:	n/a	n/a
4	FOXA1	chr7:26403037-26403455	HepG2	liver:	n/a	chr7:26403208-26403223
5	ESR1	chr7:26403132-26403820	T-47D	breast:	n/a	n/a
6	FOXA2	chr7:26402950-26403417	A549	lung:	n/a	n/a
7	FOXA1	chr7:26403175-26403370	T-47D	breast:	n/a	chr7:26403208-26403223
8	MAFK	chr7:26403238-26403362	HepG2	liver:	n/a	n/a
9	FOXA1	chr7:26402917-26403510	HepG2	liver:	n/a	chr7:26403208-26403223
10	FOXA1	chr7:26402906-26403455	HepG2	liver:	n/a	chr7:26403208-26403223
11	FOXA1	chr7:26403034-26403380	HepG2	liver:	n/a	chr7:26403208-26403223
12	FOXA1	chr7:26403026-26403503	T-47D	breast:	n/a	chr7:26403208-26403223
13	ESR1	chr7:26403098-26403795	T-47D	breast:	n/a	n/a
14	FOXA2	chr7:26402703-26404035	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:26403189..26403906-chr7:26597844..26598711,3	MCF-7	breast:
2	chr7:26238752..26241126-chr7:26401530..26405700,5	MCF-7	breast:
3	chr7:26243874..26246408-chr7:26403177..26404813,2	MCF-7	breast:
4	chr7:26224710..26231544-chr7:26402048..26407320,8	K562	blood:
5	chr7:26238011..26242916-chr7:26400117..26407916,12	MCF-7	breast:
6	chr7:26389556..26392091-chr7:26400125..26403853,4	K562	blood:
7	chr7:26403153..26403926-chr7:26597742..26598711,5	MCF-7	breast:

Variant related genes	Relation type
SNX10	TF binding region
ENSG00000122566	Chromatin interaction
ENSG00000122565	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10807832	0.84[ASN][1000 genomes]
rs10951132	0.84[ASN][1000 genomes]
rs17153504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3193526	0.84[ASN][1000 genomes]
rs966416	0.82[ASN][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	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26368800-26405000	Weak transcription	Placenta	Placenta
2	chr7:26372400-26405200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr7:26375000-26414000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:26384800-26409400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:26385600-26414200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:26386600-26405200	Weak transcription	Thymus	Thymus
7	chr7:26387400-26409400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:26387800-26409400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:26388000-26409400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:26388200-26404600	Weak transcription	Dnd41	blood
11	chr7:26388200-26405000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:26388800-26405200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr7:26389000-26413200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:26390200-26405000	Weak transcription	Primary T cells from cord blood	blood
15	chr7:26391200-26404600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:26392000-26404600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:26397000-26409400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:26397200-26404600	Weak transcription	Fetal Intestine Small	intestine
19	chr7:26397400-26403600	Weak transcription	Fetal Intestine Large	intestine
20	chr7:26397400-26405200	Weak transcription	Fetal Thymus	thymus
21	chr7:26397600-26405000	Weak transcription	Spleen	Spleen
22	chr7:26398600-26415400	Weak transcription	HMEC	breast
23	chr7:26400400-26403600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:26400600-26404200	Weak transcription	GM12878-XiMat	blood
25	chr7:26400600-26405200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:26401000-26404600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr7:26401200-26404400	Weak transcription	Primary B cells from cord blood	blood
28	chr7:26401400-26405000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:26401800-26404600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr7:26402400-26404200	Enhancers	HepG2	liver
31	chr7:26402600-26406200	Weak transcription	Lung	lung
32	chr7:26402600-26415200	Enhancers	Liver	Liver
33	chr7:26402800-26403400	Weak transcription	Pancreas	Pancrea
34	chr7:26402800-26404600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:26403000-26404000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr7:26403000-26404600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:26403200-26404000	Enhancers	Stomach Mucosa	stomach
38	chr7:26403200-26404000	Enhancers	A549	lung
39	chr7:26403200-26404600	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr7:26403200-26407600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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