Variant report

Variant	rs2167177
Chromosome Location	chr3:150135186-150135187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150133493..150135633-chr3:150263328..150264884,2	MCF-7	breast:
2	chr3:150100256..150103024-chr3:150133786..150136650,2	K562	blood:
3	chr3:150134899..150136679-chr3:150137562..150139549,2	MCF-7	breast:
4	chr3:149955070..149958943-chr3:150133193..150137279,5	MCF-7	breast:
5	chr3:150133801..150136735-chr3:150211220..150213846,2	MCF-7	breast:
6	chr3:150134729..150137378-chr3:150149401..150152677,3	MCF-7	breast:
7	chr3:150132083..150135574-chr3:150261466..150265454,4	K562	blood:
8	chr3:150130662..150134020-chr3:150134493..150137721,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000144895	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000244541	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11711035	0.81[ASN][1000 genomes]
rs13080841	0.82[ASN][1000 genomes]
rs13080858	0.82[ASN][1000 genomes]
rs13082720	0.99[ASN][1000 genomes]
rs1450335	0.99[ASN][1000 genomes]
rs1450336	0.99[ASN][1000 genomes]
rs1450344	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16862651	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1868672	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1868673	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28514580	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4681206	0.81[ASN][1000 genomes]
rs4681615	0.99[ASN][1000 genomes]
rs4681619	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6762432	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6770424	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6792759	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6810143	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7427177	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7626725	0.99[ASN][1000 genomes]
rs7651353	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7651989	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9289810	0.99[ASN][1000 genomes]
rs9784281	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9784335	0.81[ASN][1000 genomes]
rs9813752	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9846873	0.98[ASN][1000 genomes]
rs9882777	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829755	chr3:149992023-150156001	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv1828464	chr3:150096071-150149868	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1799287	chr3:150125721-150147118	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150125000-150137400	Active TSS	GM12878-XiMat	blood
2	chr3:150131000-150136000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:150131000-150138600	Weak transcription	Lung	lung
4	chr3:150131000-150152000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:150131000-150166000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:150131200-150135200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:150131200-150138600	Enhancers	Colon Smooth Muscle	Colon
8	chr3:150131400-150138600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:150131800-150136000	Strong transcription	Primary B cells from peripheral blood	blood
10	chr3:150132000-150136200	Transcr. at gene 5' and 3'	K562	blood
11	chr3:150132200-150136000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr3:150132200-150136400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr3:150132200-150140600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:150132400-150135800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:150132400-150135800	Weak transcription	Ovary	ovary
16	chr3:150132400-150139200	Weak transcription	Fetal Stomach	stomach
17	chr3:150132400-150146000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:150132400-150151400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:150132400-150151600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:150132400-150159200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr3:150132400-150160400	Weak transcription	Pancreas	Pancrea
22	chr3:150132400-150175000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr3:150132400-150175000	Weak transcription	Placenta	Placenta
24	chr3:150132600-150136200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:150132600-150136400	Genic enhancers	A549	lung
26	chr3:150132600-150137800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr3:150132600-150145200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr3:150132800-150135400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr3:150132800-150136600	Enhancers	Brain Angular Gyrus	brain
30	chr3:150132800-150138200	Enhancers	Brain Substantia Nigra	brain
31	chr3:150132800-150145800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr3:150132800-150145800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:150132800-150151000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr3:150133000-150136000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:150133000-150136400	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr3:150133000-150136400	Genic enhancers	Fetal Lung	lung
37	chr3:150133000-150139800	Weak transcription	Fetal Kidney	kidney
38	chr3:150133400-150135800	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr3:150133400-150136200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:150133400-150136200	Genic enhancers	NHEK	skin
41	chr3:150133400-150136600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr3:150133400-150137400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr3:150133400-150137600	Genic enhancers	HSMM	muscle
44	chr3:150133600-150135200	Weak transcription	Psoas Muscle	Psoas
45	chr3:150133600-150135200	Weak transcription	Small Intestine	intestine
46	chr3:150133600-150135400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr3:150133600-150136800	Weak transcription	HSMMtube	muscle
48	chr3:150133600-150139600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr3:150133600-150139800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr3:150133600-150151000	Weak transcription	Primary monocytes fromperipheralblood	blood

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