Variant report

Variant	rs16969393
Chromosome Location	chr15:74783370-74783371
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:74783360-74783510	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:74780460..74785045-chr15:74835980..74840156,5	MCF-7	breast:
2	chr15:74753246..74754945-chr15:74782275..74784079,2	K562	blood:
3	chr15:74782235..74783902-chr15:74907609..74909890,2	K562	blood:
4	chr15:74781188..74783962-chr15:74831156..74833818,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARID3B-2	chr15:74783302-74783376	ENSG00000261775.1
2	lnc-ARID3B-2	chr15:74783301-74783376	NONHSAT047245

No data

Variant related genes	Relation type
ENSG00000212279	TF binding region
ENSG00000260103	TF binding region
ENSG00000179361	Chromatin interaction
ENSG00000138629	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000247240	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1030889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10459648	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs10851871	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs10851873	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11072488	0.84[ASN][1000 genomes]
rs11072492	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs11072493	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs11072494	0.95[JPT][hapmap]
rs11072495	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs11072496	0.91[JPT][hapmap]
rs11072497	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs11072498	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs11629749	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs11629946	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs11852291	0.82[ASN][1000 genomes]
rs11854461	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs11855521	0.86[ASN][1000 genomes]
rs11856543	0.86[ASN][1000 genomes]
rs11857328	0.81[ASN][1000 genomes]
rs12439113	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs12439505	0.84[ASN][1000 genomes]
rs12440645	0.82[ASN][1000 genomes]
rs12440654	0.82[ASN][1000 genomes]
rs12441932	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs12442097	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs12591603	0.81[ASN][1000 genomes]
rs12592493	0.86[ASN][1000 genomes]
rs12592512	0.86[ASN][1000 genomes]
rs12592906	0.86[ASN][1000 genomes]
rs12594766	0.86[ASN][1000 genomes]
rs12595017	0.86[ASN][1000 genomes]
rs16969247	0.83[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1866113	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs2068982	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs2289187	0.82[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2289188	0.83[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2415242	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs35752918	0.84[ASN][1000 genomes]
rs3985310	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs4077703	0.84[ASN][1000 genomes]
rs4278699	0.81[ASN][1000 genomes]
rs4324083	0.82[ASN][1000 genomes]
rs4369610	0.83[ASN][1000 genomes]
rs4372642	0.81[ASN][1000 genomes]
rs4468560	0.82[ASN][1000 genomes]
rs4544202	0.86[ASN][1000 genomes]
rs4886599	0.83[ASN][1000 genomes]
rs4886601	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs4887150	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs4887151	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs4887152	0.84[ASN][1000 genomes]
rs4887153	0.86[ASN][1000 genomes]
rs4887154	0.83[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4887159	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs4887163	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs4887166	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs55662551	0.86[ASN][1000 genomes]
rs56367313	0.86[ASN][1000 genomes]
rs57271230	0.86[ASN][1000 genomes]
rs6495101	0.82[ASN][1000 genomes]
rs6495102	0.86[ASN][1000 genomes]
rs6495103	0.86[ASN][1000 genomes]
rs6495105	0.82[CHB][hapmap];0.96[JPT][hapmap];0.86[ASN][1000 genomes]
rs6495106	0.83[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs6495108	0.81[ASN][1000 genomes]
rs6495116	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs6495117	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs6495118	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs7161903	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs7163775	0.82[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7166701	0.82[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7169985	0.82[ASN][1000 genomes]
rs7171838	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs7177140	0.86[ASN][1000 genomes]
rs7178219	0.81[ASN][1000 genomes]
rs7178568	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs7497342	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs8023479	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs8026923	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs8027066	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs8028430	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs8029099	0.84[ASN][1000 genomes]
rs8029116	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs8029215	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs8033841	0.86[ASN][1000 genomes]
rs8036030	0.86[JPT][hapmap]
rs8037211	0.83[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs8037436	0.81[ASN][1000 genomes]
rs8038730	0.81[ASN][1000 genomes]
rs9635320	0.82[CHB][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1809847	chr15:74734500-74948063	Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1044797	chr15:74773661-74819852	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74754200-74798400	Weak transcription	Aorta	Aorta
2	chr15:74754400-74797600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr15:74754600-74784400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr15:74754600-74789800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:74754600-74800000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:74755200-74789200	Weak transcription	NHEK	skin
7	chr15:74755200-74789800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:74755200-74790000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:74755400-74789400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:74760800-74785600	Weak transcription	Ovary	ovary
11	chr15:74761000-74802200	Weak transcription	Fetal Intestine Small	intestine
12	chr15:74762600-74807400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr15:74763600-74796400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr15:74765000-74800000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr15:74767600-74804800	Weak transcription	Lung	lung
16	chr15:74768200-74797200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:74769800-74800600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr15:74770000-74796600	Weak transcription	HepG2	liver
19	chr15:74770800-74791800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:74774000-74789200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:74774000-74798400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr15:74774000-74800000	Weak transcription	Pancreas	Pancrea
23	chr15:74774000-74803200	Weak transcription	Spleen	Spleen
24	chr15:74774000-74815200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr15:74774200-74789400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:74774200-74800200	Weak transcription	Gastric	stomach
27	chr15:74774400-74803200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr15:74774600-74803200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr15:74775800-74807000	Weak transcription	Fetal Muscle Leg	muscle
30	chr15:74776000-74784000	Weak transcription	Fetal Stomach	stomach
31	chr15:74782000-74800400	Weak transcription	Adipose Nuclei	Adipose
32	chr15:74782200-74799600	Weak transcription	Placenta	Placenta
33	chr15:74782400-74811400	Weak transcription	Stomach Mucosa	stomach
34	chr15:74782600-74789600	Weak transcription	HSMM	muscle
35	chr15:74782600-74796200	Weak transcription	Hela-S3	cervix
36	chr15:74782800-74785000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr15:74782800-74785400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:74782800-74785800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr15:74782800-74785800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:74782800-74787400	Weak transcription	Thymus	Thymus
41	chr15:74782800-74789400	Weak transcription	Primary T cells from cord blood	blood
42	chr15:74782800-74789800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr15:74782800-74791800	Weak transcription	K562	blood
44	chr15:74782800-74794400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:74782800-74794400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr15:74782800-74794400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr15:74782800-74794800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:74782800-74796600	Weak transcription	Primary B cells from cord blood	blood
49	chr15:74782800-74798400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr15:74782800-74798800	Weak transcription	H1 Cell Line	embryonic stem cell

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