Variant report

Variant	rs3829844
Chromosome Location	chr7:26332328-26332329
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	IKZF1	chr7:26331807-26332683	GM12878	blood:	n/a	n/a
2	UBTF	chr7:26331207-26332554	K562	blood:	n/a	n/a
3	SMARCC1	chr7:26331065-26332604	Hela-S3	cervix:	n/a	chr7:26331318-26331327
4	MAX	chr7:26332175-26332640	GM12878	blood:	n/a	chr7:26332591-26332600
5	ZNF263	chr7:26332200-26332670	HEK293-T-REx	kidney:	n/a	n/a
6	CUX1	chr7:26332144-26332431	K562	blood:	n/a	n/a
7	RCOR1	chr7:26332299-26332704	K562	blood:	n/a	n/a
8	WRNIP1	chr7:26332057-26332495	GM12878	blood:	n/a	n/a
9	MAZ	chr7:26331193-26332763	HepG2	liver:	n/a	chr7:26332591-26332600
10	HCFC1	chr7:26330646-26332609	Hela-S3	cervix:	n/a	n/a
11	BHLHE40	chr7:26332327-26332497	K562	blood:	n/a	n/a
12	CCNT2	chr7:26331309-26332362	K562	blood:	n/a	chr7:26332052-26332061
13	HA-E2F1	chr7:26331069-26332669	MCF-7	breast:	n/a	chr7:26331621-26331635 chr7:26331626-26331633 chr7:26331606-26331616 chr7:26331615-26331625 chr7:26331522-26331531
14	HEY1	chr7:26332294-26332714	HepG2	liver:	n/a	n/a
15	POLR2A	chr7:26332140-26332724	HepG2	liver:	n/a	n/a
16	POLR2A	chr7:26332309-26332726	HepG2	liver:	n/a	n/a
17	STAT1	chr7:26332248-26332610	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:26224902..26232884-chr7:26322008..26332976,29	K562	blood:
2	chr7:26245933..26247865-chr7:26330832..26332898,2	MCF-7	breast:
3	chr7:26245433..26248011-chr7:26331906..26333789,2	K562	blood:
4	chr7:26328900..26331776-chr7:26331845..26333997,2	K562	blood:
5	chr7:26313684..26316528-chr7:26331156..26333725,2	K562	blood:
6	chr7:26224902..26232884-chr7:26322942..26334107,28	K562	blood:
7	chr7:26239911..26241819-chr7:26331558..26335355,4	K562	blood:
8	chr7:26330494..26332726-chr7:26403941..26406420,2	MCF-7	breast:
9	chr7:26235076..26236673-chr7:26331695..26333731,2	K562	blood:
10	chr7:26238219..26243115-chr7:26329445..26335775,8	MCF-7	breast:
11	chr7:26329968..26332567-chr7:26407158..26410797,3	MCF-7	breast:
12	chr7:26239115..26241411-chr7:26331558..26333591,3	K562	blood:
13	chr7:26238789..26244149-chr7:26328226..26335284,15	MCF-7	breast:

Variant related genes	Relation type
SNX10	TF binding region
ENSG00000232383	Chromatin interaction
ENSG00000122566	Chromatin interaction
ENSG00000122565	Chromatin interaction
ENSG00000086300	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12531745	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12532578	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12533455	0.81[AMR][1000 genomes]
rs12536909	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12538280	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59580221	0.82[ASN][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	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	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv1018352	chr7:26298095-26341825	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	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
5	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26330800-26332600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:26331000-26332400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:26331000-26332400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:26331000-26332400	Active TSS	Rectal Smooth Muscle	rectum
5	chr7:26331000-26332600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:26331000-26332600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr7:26331000-26332600	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr7:26331000-26332600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr7:26331000-26332800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:26331000-26332800	Flanking Active TSS	Dnd41	blood
11	chr7:26331200-26332400	Active TSS	Colonic Mucosa	Colon
12	chr7:26331200-26332400	Active TSS	Esophagus	oesophagus
13	chr7:26331200-26332600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr7:26331200-26332600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:26331200-26333200	Active TSS	Brain Hippocampus Middle	brain
16	chr7:26331200-26333600	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr7:26331200-26333800	Active TSS	Brain Angular Gyrus	brain
18	chr7:26331400-26332400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:26331400-26332400	Active TSS	Brain Cingulate Gyrus	brain
20	chr7:26331400-26332400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
21	chr7:26331400-26332400	Bivalent/Poised TSS	Fetal Stomach	stomach
22	chr7:26331400-26332400	Active TSS	Pancreas	Pancrea
23	chr7:26331400-26332400	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr7:26331400-26332600	Active TSS	Fetal Brain Female	brain
25	chr7:26331400-26332600	Active TSS	Right Atrium	heart
26	chr7:26331400-26333000	Active TSS	GM12878-XiMat	blood
27	chr7:26331600-26333000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:26331800-26332400	Bivalent/Poised TSS	HepG2	liver
29	chr7:26331800-26332600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr7:26331800-26332600	Flanking Active TSS	Fetal Intestine Small	intestine
31	chr7:26331800-26332800	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr7:26331800-26332800	Flanking Active TSS	Fetal Thymus	thymus
33	chr7:26331800-26333400	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr7:26331800-26333800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr7:26331800-26333800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:26331800-26334200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:26331800-26334400	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr7:26332000-26332400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:26332000-26332400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:26332000-26332400	Active TSS	Brain Germinal Matrix	brain
41	chr7:26332000-26332400	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr7:26332000-26332400	Flanking Active TSS	Fetal Kidney	kidney
43	chr7:26332000-26332400	Enhancers	Fetal Lung	lung
44	chr7:26332000-26332400	Weak transcription	Lung	lung
45	chr7:26332000-26332600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:26332000-26332600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:26332000-26332600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr7:26332000-26332600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
49	chr7:26332000-26332800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:26332000-26332800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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