Variant report

Variant	rs9578103
Chromosome Location	chr13:30098614-30098615
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	FOXP2	chr13:30098406-30098808	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr13:30097112-30098752	K562	blood:	n/a	n/a
3	EP300	chr13:30096936-30099091	ECC-1	luminal epithelium:	n/a	chr13:30098814-30098824 chr13:30098684-30098693 chr13:30098503-30098519 chr13:30096996-30097005
4	POLR2A	chr13:30098425-30098619	GM12878	blood:	n/a	n/a
5	POLR2A	chr13:30097391-30098654	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr13:30094962-30101147	K562	blood:	n/a	n/a
7	POLR2A	chr13:30098494-30099803	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:30097786..30099573-chr13:30101408..30103698,3	K562	blood:
2	chr13:30097786..30100051-chr13:30101408..30104105,2	K562	blood:
3	chr13:30085195..30087223-chr13:30096814..30099566,2	MCF-7	breast:

Variant related genes	Relation type
SLC7A1	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10454589	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10454590	0.85[EUR][1000 genomes]
rs17601608	1.00[YRI][hapmap]
rs2482091	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2482093	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2490265	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2989593	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs34369885	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34496705	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71434731	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7329421	1.00[YRI][hapmap]
rs7333701	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7993193	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7998704	1.00[YRI][hapmap]
rs9314960	1.00[YRI][hapmap]
rs9578104	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9578105	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9578106	0.85[EUR][1000 genomes]
rs9578107	0.85[EUR][1000 genomes]
rs9579383	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9579384	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9579386	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9579387	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9579388	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9579389	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9579390	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9579391	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9579392	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9579393	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9579394	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9579395	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9579396	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9579398	0.85[EUR][1000 genomes]
rs9579402	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9579403	0.90[AFR][1000 genomes]
rs9579404	0.90[AFR][1000 genomes]
rs9579406	1.00[YRI][hapmap]
rs9579407	1.00[YRI][hapmap]
rs9579408	1.00[YRI][hapmap]
rs9579410	1.00[YRI][hapmap]

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	nsv430551	chr13:30061100-30113000	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30071000-30128800	Strong transcription	Dnd41	blood
2	chr13:30082000-30106600	Weak transcription	Fetal Kidney	kidney
3	chr13:30082000-30107600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:30082800-30111600	Weak transcription	Stomach Mucosa	stomach
5	chr13:30083200-30107200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr13:30084200-30106000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr13:30084200-30107800	Strong transcription	Esophagus	oesophagus
8	chr13:30084200-30110400	Strong transcription	Fetal Intestine Small	intestine
9	chr13:30084200-30110600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:30084200-30112600	Strong transcription	NHEK	skin
11	chr13:30084200-30115800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr13:30084400-30111200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr13:30084600-30112200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:30084800-30110400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr13:30084800-30110600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr13:30084800-30111600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr13:30085000-30099000	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr13:30085000-30111600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr13:30085200-30098800	Strong transcription	Duodenum Mucosa	Duodenum
20	chr13:30085200-30099800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr13:30085200-30104200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr13:30085400-30099800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr13:30085600-30111200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr13:30085600-30111600	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr13:30085800-30099400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr13:30085800-30115400	Strong transcription	Primary T cells from cord blood	blood
27	chr13:30086000-30110600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr13:30086000-30111200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr13:30086600-30104800	Weak transcription	Fetal Brain Male	brain
30	chr13:30086800-30098800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr13:30087000-30099200	Strong transcription	Primary hematopoietic stem cells	blood
32	chr13:30087000-30099600	Strong transcription	Fetal Brain Female	brain
33	chr13:30087000-30110200	Strong transcription	GM12878-XiMat	blood
34	chr13:30087200-30099000	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr13:30087400-30099600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr13:30087600-30099000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr13:30088000-30104600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr13:30088200-30099000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr13:30089800-30110800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr13:30092200-30133000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr13:30092800-30106400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr13:30094000-30108000	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr13:30094800-30098800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr13:30095200-30112800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr13:30095400-30098800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr13:30095400-30099000	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr13:30095400-30114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr13:30095600-30110600	Strong transcription	Thymus	Thymus
49	chr13:30095800-30099000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr13:30095800-30102200	Weak transcription	Ovary	ovary

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