Variant report

Variant	rs13321198
Chromosome Location	chr3:49444671-49444672
allele	G/T
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	ZNF384	chr3:49444543-49444803	K562	blood:	n/a	n/a
2	ELK4	chr3:49444642-49444820	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr3:49444604-49444838	GM12878	blood:	n/a	n/a
4	MYC	chr3:49444565-49445007	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:49208493..49210199-chr3:49443469..49445452,2	MCF-7	breast:
2	chr3:49441705..49446563-chr3:49447849..49450189,5	MCF-7	breast:
3	chr3:49443013..49445153-chr3:49447014..49449649,3	MCF-7	breast:

Variant related genes	Relation type
TCTA	TF binding region
ENSG00000067560	Chromatin interaction
ENSG00000145022	Chromatin interaction
ENSG00000185909	Chromatin interaction

rs_ID	r²[population]
rs13317185	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72922915	1.00[AMR][1000 genomes]
rs72940883	1.00[AMR][1000 genomes]
rs9810596	0.85[AFR][1000 genomes]
rs9838096	1.00[AMR][1000 genomes]

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49399000-49448000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:49406000-49445200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:49413200-49447400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:49427000-49448400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:49429000-49447200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:49431200-49447200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:49433800-49447200	Weak transcription	Colonic Mucosa	Colon
8	chr3:49435400-49445600	Weak transcription	Fetal Brain Male	brain
9	chr3:49435400-49447000	Weak transcription	HSMMtube	muscle
10	chr3:49435400-49447800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:49435800-49446800	Weak transcription	Brain Angular Gyrus	brain
12	chr3:49438200-49446800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:49439000-49447200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:49439600-49447200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:49439800-49447000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr3:49440200-49447000	Weak transcription	Fetal Lung	lung
17	chr3:49441400-49447000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:49441400-49447000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr3:49441400-49447200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:49441600-49446000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:49441600-49447000	Weak transcription	Fetal Brain Female	brain
22	chr3:49441600-49447200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:49441600-49447600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr3:49441800-49444800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:49441800-49445000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:49441800-49445200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr3:49441800-49447000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:49441800-49447200	Weak transcription	Fetal Intestine Large	intestine
29	chr3:49442800-49445200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:49442800-49445200	Enhancers	Adipose Nuclei	Adipose
31	chr3:49442800-49446400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr3:49442800-49447000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:49442800-49447000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr3:49442800-49447000	Enhancers	Fetal Muscle Leg	muscle
35	chr3:49442800-49447200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr3:49442800-49447200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr3:49442800-49447400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr3:49443000-49444800	Enhancers	HSMM	muscle
39	chr3:49443000-49445400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr3:49443000-49445600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr3:49443000-49445600	Enhancers	Left Ventricle	heart
42	chr3:49443000-49445600	Enhancers	Right Atrium	heart
43	chr3:49443000-49446200	Enhancers	Duodenum Mucosa	Duodenum
44	chr3:49443000-49446400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:49443000-49447200	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr3:49443000-49447200	Enhancers	Liver	Liver
47	chr3:49443200-49445400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr3:49443200-49446000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr3:49443200-49446000	Enhancers	Stomach Mucosa	stomach
50	chr3:49443200-49446400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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