Variant report

Variant	rs12503720
Chromosome Location	chr4:99582501-99582502
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr4:99582485-99582621	MCF10A-Er-Src	breast:	n/a	n/a
2	TCF7L2	chr4:99582270-99583184	HEK293	kidney:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:99181647..99184072-chr4:99579310..99582613,3	MCF-7	breast:
2	chr4:99582239..99583108-chr4:99609379..99609939,2	MCF-7	breast:
3	chr4:99582239..99583511-chr4:99609379..99610075,4	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAP1GDS1-3	chr4:99580055-99585701	ENSG00000260641.1
2	lnc-RAP1GDS1-3	chr4:99580055-99585702	NONHSAT097492

No data

Variant related genes	Relation type
TSPAN5	TF binding region
ENSG00000214559	Chromatin interaction
ENSG00000138698	Chromatin interaction

rs_ID	r²[population]
rs28744614	0.82[ASN][1000 genomes]
rs7675896	0.89[ASN][1000 genomes]

SNP	Gene	Cis/trans	Tissue	Source
rs12503720	RP11-1299A16.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99580400-99582600	Weak transcription	Small Intestine	intestine
2	chr4:99580400-99583800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:99580400-99584000	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr4:99580600-99583400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:99580600-99583800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:99580600-99583800	Weak transcription	Thymus	Thymus
7	chr4:99580600-99584000	Weak transcription	Spleen	Spleen
8	chr4:99580600-99584400	Weak transcription	Adipose Nuclei	Adipose
9	chr4:99580600-99585200	Enhancers	Fetal Lung	lung
10	chr4:99580800-99583200	Enhancers	Fetal Intestine Large	intestine
11	chr4:99580800-99583800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr4:99580800-99583800	Enhancers	Primary T cells from cord blood	blood
13	chr4:99580800-99583800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr4:99580800-99583800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:99580800-99584000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:99580800-99584000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:99580800-99584000	Weak transcription	Lung	lung
18	chr4:99580800-99584200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:99580800-99585200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:99581000-99583000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr4:99581000-99583600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:99581000-99584000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:99581000-99585800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:99581200-99582800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr4:99581200-99584000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr4:99581200-99584000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:99581200-99584000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr4:99581200-99584000	Weak transcription	Gastric	stomach
29	chr4:99581200-99584200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr4:99581200-99584200	Weak transcription	Brain Hippocampus Middle	brain
31	chr4:99581200-99584200	Weak transcription	Fetal Muscle Leg	muscle
32	chr4:99581200-99584600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:99581400-99582600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr4:99581400-99582600	Enhancers	NHEK	skin
35	chr4:99581400-99582800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:99581400-99582800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr4:99581400-99583000	Enhancers	NHLF	lung
38	chr4:99581400-99583200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:99581400-99583400	Weak transcription	Fetal Thymus	thymus
40	chr4:99581400-99583600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr4:99581400-99583800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr4:99581400-99583800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr4:99581400-99584000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:99581400-99584000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:99581400-99584000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:99581400-99584000	Weak transcription	Esophagus	oesophagus
47	chr4:99581400-99584000	Weak transcription	Pancreas	Pancrea
48	chr4:99581400-99584200	Weak transcription	Placenta	Placenta
49	chr4:99581400-99584200	Weak transcription	Left Ventricle	heart
50	chr4:99581400-99584400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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