Variant report

Variant	rs9804143
Chromosome Location	chr1:149912145-149912146
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr1:149912050-149912194	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:149911912-149913368	K562	blood:	n/a	n/a
3	ZNF384	chr1:149911902-149912262	K562	blood:	n/a	n/a
4	CTCF	chr1:149912054-149912198	K562	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:149815719..149822339-chr1:149907112..149913890,13	MCF-7	breast:
2	chr1:149911189..149913982-chr1:150022742..150024271,2	MCF-7	breast:
3	chr1:149911144..149914271-chr1:149919148..149922451,3	K562	blood:
4	chr1:149911926..149914059-chr1:149920951..149923919,2	K562	blood:
5	chr1:149908339..149915829-chr1:150035449..150039990,12	MCF-7	breast:
6	chr1:149813703..149815713-chr1:149909589..149912575,2	MCF-7	breast:
7	chr1:149909098..149913476-chr1:149978280..149982825,6	MCF-7	breast:
8	chr1:149820142..149822893-chr1:149910966..149912926,2	K562	blood:
9	chr1:149909612..149912880-chr1:149960948..149964772,4	MCF-7	breast:
10	chr1:149908458..149914088-chr1:149980717..149984285,8	MCF-7	breast:
11	chr1:149907171..149915966-chr1:150036158..150043011,15	MCF-7	breast:
12	chr1:149814002..149823234-chr1:149906555..149912579,18	MCF-7	breast:
13	chr1:149910983..149913297-chr1:150134824..150136527,2	K562	blood:
14	chr1:149909776..149912433-chr1:150001738..150003437,2	MCF-7	breast:

No data

Variant related genes	Relation type
MTMR11	TF binding region
ENSG00000261716	Chromatin interaction
ENSG00000203812	Chromatin interaction
ENSG00000203819	Chromatin interaction
ENSG00000272993	Chromatin interaction
ENSG00000183558	Chromatin interaction
ENSG00000220323	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000136631	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10494259	0.85[ASW][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1061955	1.00[AMR][1000 genomes]
rs11205313	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs11205314	1.00[AMR][1000 genomes]
rs12022928	0.90[YRI][hapmap]
rs12060171	1.00[AMR][1000 genomes]
rs12060830	0.85[ASW][hapmap];0.83[MKK][hapmap];0.95[YRI][hapmap]
rs12064434	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12082035	0.85[ASW][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12091025	0.85[ASW][hapmap];0.86[MKK][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs12091858	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs12091904	1.00[AMR][1000 genomes]
rs16833063	0.85[ASW][hapmap];0.86[MKK][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs16833149	0.90[YRI][hapmap]
rs16833175	0.85[ASW][hapmap];0.86[MKK][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs16833178	0.86[MKK][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs16838432	0.85[ASW][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4279885	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs58342123	1.00[AMR][1000 genomes]
rs74126211	1.00[AMR][1000 genomes]
rs7517085	1.00[AMR][1000 genomes]
rs9988489	0.85[ASW][hapmap];0.86[MKK][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases
3	esv2105844	chr1:149912144-149912146	Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149908800-149912600	Weak transcription	Gastric	stomach
2	chr1:149909200-149915400	Weak transcription	Brain Germinal Matrix	brain
3	chr1:149909200-149916400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:149909400-149912600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:149909400-149915000	Weak transcription	Fetal Brain Female	brain
6	chr1:149909400-149947000	Weak transcription	Fetal Brain Male	brain
7	chr1:149909600-149916400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:149909800-149913800	Weak transcription	Fetal Lung	lung
9	chr1:149909800-149916600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:149910000-149912400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:149910000-149913800	Weak transcription	Fetal Kidney	kidney
12	chr1:149910000-149914400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:149910000-149934200	Weak transcription	Primary T cells from cord blood	blood
14	chr1:149910200-149914800	Weak transcription	Thymus	Thymus
15	chr1:149910200-149914800	Weak transcription	Spleen	Spleen
16	chr1:149910200-149915800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:149910200-149915800	Weak transcription	Esophagus	oesophagus
18	chr1:149910200-149929800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:149910400-149912200	Enhancers	Small Intestine	intestine
20	chr1:149910600-149912200	Enhancers	Fetal Heart	heart
21	chr1:149910600-149914000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:149911000-149912800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr1:149911000-149916000	Weak transcription	Psoas Muscle	Psoas
24	chr1:149911200-149912400	Enhancers	Placenta	Placenta
25	chr1:149911400-149912200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:149911400-149912200	Enhancers	HMEC	breast
27	chr1:149911400-149912200	Enhancers	NHDF-Ad	bronchial
28	chr1:149911400-149912200	Enhancers	NHEK	skin
29	chr1:149911400-149912400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:149911400-149912400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr1:149911400-149912400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:149911400-149912400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:149911400-149912600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr1:149911400-149912600	Enhancers	Fetal Intestine Small	intestine
35	chr1:149911400-149912600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr1:149911400-149912800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr1:149911400-149912800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:149911400-149912800	Enhancers	Fetal Intestine Large	intestine
39	chr1:149911400-149912800	Enhancers	Stomach Mucosa	stomach
40	chr1:149911400-149913200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:149911400-149913200	Weak transcription	Fetal Thymus	thymus
42	chr1:149911400-149913800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:149911400-149913800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr1:149911400-149914000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:149911400-149914400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr1:149911400-149914600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr1:149911400-149914600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:149911400-149915000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:149911400-149915200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr1:149911400-149915400	Weak transcription	Primary T cells fromperipheralblood	blood

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