Variant report

Variant	rs28402911
Chromosome Location	chr7:137683521-137683522
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:137683436-137683849	GM12878	blood:	n/a	n/a
2	IRF1	chr7:137683396-137683596	K562	blood:	n/a	n/a
3	POLR2A	chr7:137683464-137683812	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:137680358-137688132	IMR90	lung:	n/a	n/a
5	MAZ	chr7:137682562-137687687	IMR90	lung:	n/a	chr7:137686951-137686961 chr7:137686969-137686978 chr7:137682763-137682772
6	MYC	chr7:137683463-137683848	MCF10A-Er-Src	breast:	n/a	n/a
7	MXI1	chr7:137682904-137687728	IMR90	lung:	n/a	n/a
8	CHD1	chr7:137680307-137687791	IMR90	lung:	n/a	n/a
9	MAX	chr7:137683475-137683747	K562	blood:	n/a	n/a
10	MYC	chr7:137683337-137683743	K562	blood:	n/a	n/a
11	WRNIP1	chr7:137683505-137683807	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:137682416-137686974	K562	blood:	n/a	n/a
13	YY1	chr7:137683426-137683728	GM12878	blood:	n/a	n/a
14	MXI1	chr7:137682524-137687800	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr7:137683457-137684179	GM12878	blood:	n/a	n/a
16	MYC	chr7:137683453-137684008	MCF10A-Er-Src	breast:	n/a	n/a
17	RUNX3	chr7:137683456-137683922	GM12878	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:137668556..137671067-chr7:137681395..137683694,3	K562	blood:
2	chr7:137650568..137655149-chr7:137681332..137686254,5	K562	blood:
3	chr7:137611454..137613433-chr7:137681240..137683694,2	K562	blood:
4	chr7:137675779..137678076-chr7:137683234..137685451,3	MCF-7	breast:
5	chr7:137680750..137684658-chr7:137684810..137687864,6	MCF-7	breast:
6	chr7:137646546..137650586-chr7:137681825..137685474,4	MCF-7	breast:
7	chr7:137666743..137668309-chr7:137682056..137684438,2	K562	blood:
8	chr7:137675508..137679283-chr7:137680974..137684183,3	MCF-7	breast:
9	chr7:137642984..137645404-chr7:137681630..137683581,2	K562	blood:
10	chr7:137669491..137672083-chr7:137680534..137683694,3	K562	blood:
11	chr7:137636438..137645214-chr7:137681826..137688964,19	MCF-7	breast:

No data

Variant related genes	Relation type
AKR1D1	TF binding region
ENSG00000182158	Chromatin interaction
ENSG00000122787	Chromatin interaction
ENSG00000237243	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10243620	0.93[AFR][1000 genomes]
rs10256798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7802497	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription 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 miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137673200-137684200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr7:137674200-137684600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:137675400-137684400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:137675600-137683600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:137675800-137684400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:137676000-137684200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:137677400-137684400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:137677800-137684200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:137678200-137684400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:137678200-137684800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:137678400-137684800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr7:137678600-137684800	Weak transcription	Spleen	Spleen
13	chr7:137679200-137684600	Weak transcription	Brain Angular Gyrus	brain
14	chr7:137679200-137684600	Weak transcription	Colonic Mucosa	Colon
15	chr7:137679400-137683600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:137679400-137683600	Weak transcription	Right Ventricle	heart
17	chr7:137679400-137684400	Weak transcription	Stomach Mucosa	stomach
18	chr7:137679600-137684600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr7:137679600-137684600	Weak transcription	Gastric	stomach
20	chr7:137680600-137684600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr7:137680600-137685400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:137680800-137684800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:137681200-137684000	Genic enhancers	Fetal Muscle Leg	muscle
24	chr7:137681200-137684800	Enhancers	Small Intestine	intestine
25	chr7:137681400-137684000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:137681400-137684400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:137681400-137684800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr7:137681400-137686800	Active TSS	Aorta	Aorta
29	chr7:137681600-137683600	Enhancers	Brain Hippocampus Middle	brain
30	chr7:137681600-137683800	Enhancers	HUVEC	blood vessel
31	chr7:137681600-137684400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr7:137681600-137684400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:137681600-137684600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr7:137681600-137684600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr7:137681600-137684600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:137681600-137684600	Weak transcription	Lung	lung
37	chr7:137681800-137684200	Weak transcription	Dnd41	blood
38	chr7:137681800-137684400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr7:137681800-137684400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr7:137681800-137684800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr7:137681800-137685000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr7:137682000-137683600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr7:137682000-137683600	Weak transcription	Right Atrium	heart
44	chr7:137682000-137684200	Weak transcription	Primary B cells from cord blood	blood
45	chr7:137682000-137684400	Weak transcription	Thymus	Thymus
46	chr7:137682000-137684400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr7:137682000-137684600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr7:137682000-137684600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:137682200-137684600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr7:137682200-137684600	Enhancers	Placenta Amnion	Placenta Amnion

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