Variant report

Variant	rs8008685
Chromosome Location	chr14:105938665-105938666
allele	C/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	RFX5	chr14:105938460-105941395	SK-N-SH	brain:	n/a	chr14:105940645-105940662 chr14:105940883-105940898 chr14:105940647-105940656 chr14:105941097-105941106 chr14:105940883-105940896 chr14:105940646-105940661 chr14:105940883-105940898 chr14:105940883-105940898 chr14:105940644-105940658 chr14:105940646-105940661 chr14:105940646-105940661 chr14:105940643-105940658
2	POLR2A	chr14:105938051-105939650	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr14:105937180-105939235	Hela-S3	cervix:	n/a	n/a
4	MXI1	chr14:105938422-105943754	SK-N-SH	brain:	n/a	chr14:105940882-105940897 chr14:105940645-105940660 chr14:105940647-105940662 chr14:105939313-105939322
5	BCL3	chr14:105938301-105939216	A549	lung:	n/a	chr14:105938365-105938374
6	EP300	chr14:105938638-105943522	ECC-1	luminal epithelium:	n/a	chr14:105942811-105942827 chr14:105942980-105942996 chr14:105940739-105940755 chr14:105939175-105939188 chr14:105941459-105941475 chr14:105941301-105941317 chr14:105941305-105941321 chr14:105943455-105943471
7	POLR2A	chr14:105938044-105940919	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr14:105938402-105938747	HepG2	liver:	n/a	n/a
9	NFIC	chr14:105938527-105940925	ECC-1	luminal epithelium:	n/a	chr14:105939474-105939490
10	POLR2A	chr14:105938140-105938764	U87	brain:	n/a	n/a
11	POLR2A	chr14:105938607-105939277	A549	lung:	n/a	n/a
12	GATA3	chr14:105938583-105940894	MCF-7	breast:	n/a	chr14:105939905-105939912
13	NR2F2	chr14:105938108-105942125	MCF-7	breast:	n/a	n/a
14	POLR2A	chr14:105938050-105938720	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr14:105938645-105939124	A549	lung:	n/a	n/a
16	POLR2A	chr14:105938577-105940786	MCF-7	breast:	n/a	n/a
17	HDAC2	chr14:105938321-105942283	MCF-7	breast:	n/a	n/a
18	POLR2A	chr14:105938086-105939002	U87	brain:	n/a	n/a
19	NFIC	chr14:105938571-105940810	ECC-1	luminal epithelium:	n/a	chr14:105939474-105939490
20	POLR2A	chr14:105938586-105938841	HCT-116	colon:	n/a	n/a
21	ZBTB7A	chr14:105938553-105943953	ECC-1	luminal epithelium:	n/a	chr14:105940404-105940411
22	POLR2A	chr14:105938153-105938856	Hela-S3	cervix:	n/a	n/a
23	MAX	chr14:105938062-105942231	MCF-7	breast:	n/a	chr14:105941865-105941875 chr14:105941466-105941476 chr14:105941170-105941180 chr14:105940888-105940897 chr14:105940884-105940893 chr14:105942098-105942108 chr14:105940647-105940656

No.	Distal block	Cell Line	Cell type
1	chr14:105936571..105939386-chr20:49347941..49350201,2	MCF-7	breast:
2	chr14:105766164..105768024-chr14:105938486..105941026,2	MCF-7	breast:
3	chr14:105932887..105936381-chr14:105936498..105941811,9	K562	blood:
4	chr14:105914892..105915597-chr14:105938651..105939550,2	MCF-7	breast:
5	chr14:105884288..105888783-chr14:105938542..105943341,7	MCF-7	breast:
6	chr14:105884903..105887954-chr14:105938531..105942020,5	MCF-7	breast:
7	chr14:105936567..105939705-chr14:105994343..105996511,3	MCF-7	breast:
8	chr14:105936257..105939120-chr14:105942234..105944097,2	K562	blood:

Variant related genes	Relation type
CRIP2	TF binding region
ENSG00000257270	TF binding region
ENSG00000182809	Chromatin interaction
ENSG00000124171	Chromatin interaction
ENSG00000251602	Chromatin interaction
ENSG00000179364	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000185024	Chromatin interaction
ENSG00000184986	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10150915	1.00[AMR][1000 genomes]
rs12590846	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs4983409	1.00[AMR][1000 genomes]
rs4983415	1.00[AMR][1000 genomes]
rs58622351	1.00[AMR][1000 genomes]
rs8008091	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105889200-105939800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:105889200-105939800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:105897800-105940000	Weak transcription	K562	blood
4	chr14:105898400-105939800	Weak transcription	NHDF-Ad	bronchial
5	chr14:105904400-105939800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr14:105907000-105940600	Weak transcription	Small Intestine	intestine
7	chr14:105927200-105939800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr14:105929200-105940000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:105930400-105938800	Genic enhancers	Fetal Muscle Leg	muscle
10	chr14:105931000-105939800	Weak transcription	Primary B cells from cord blood	blood
11	chr14:105931200-105939800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:105931600-105939200	Weak transcription	Brain Substantia Nigra	brain
13	chr14:105932000-105938800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr14:105932000-105939200	Weak transcription	HepG2	liver
15	chr14:105932200-105940000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:105932400-105939400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:105932400-105940200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:105932600-105939000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr14:105932600-105939800	Weak transcription	NH-A	brain
20	chr14:105933400-105939800	Enhancers	Left Ventricle	heart
21	chr14:105933800-105939200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:105933800-105940200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:105934200-105939800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr14:105934200-105939800	Weak transcription	GM12878-XiMat	blood
25	chr14:105934800-105938800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr14:105934800-105939200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:105935000-105938800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr14:105935000-105939400	Weak transcription	Osteobl	bone
29	chr14:105935000-105939800	Enhancers	Fetal Lung	lung
30	chr14:105935200-105939600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:105935400-105939800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:105935400-105939800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr14:105935800-105939800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:105936000-105939800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:105936000-105939800	Weak transcription	NHEK	skin
36	chr14:105936400-105938800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:105936400-105939000	Weak transcription	Primary T cells from cord blood	blood
38	chr14:105936400-105939400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr14:105936400-105939800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr14:105936400-105939800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:105936400-105939800	Weak transcription	HUVEC	blood vessel
42	chr14:105936600-105938800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr14:105936600-105939000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr14:105936600-105939800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr14:105936600-105940000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr14:105936600-105940000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:105936800-105939800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr14:105936800-105939800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr14:105936800-105939800	Enhancers	A549	lung
50	chr14:105936800-105940600	Enhancers	Fetal Brain Male	brain

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