Variant report

Variant	rs185054552
Chromosome Location	chr7:108143939-108143940
allele	G/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	POLR2A	chr7:108143897-108144315	Raji	blood:	n/a	n/a
2	TBP	chr7:108143837-108144424	GM12878	blood:	n/a	n/a
3	CREB1	chr7:108143899-108144274	GM12878	blood:	n/a	n/a
4	CUX1	chr7:108143746-108144419	GM12878	blood:	n/a	n/a
5	ELK1	chr7:108143671-108144049	GM12878	blood:	n/a	n/a
6	EP300	chr7:108143873-108144357	GM12878	blood:	n/a	n/a
7	FOXP2	chr7:108143922-108144241	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr7:108143808-108144311	SK-N-MC	brain:	n/a	n/a
9	POU2F2	chr7:108143841-108144148	GM12878	blood:	n/a	chr7:108143965-108143978
10	POU2F2	chr7:108143718-108144196	GM12878	blood:	n/a	chr7:108143965-108143978
11	POU2F2	chr7:108143852-108144086	GM12891	blood:	n/a	chr7:108143965-108143978

No.	Distal block	Cell Line	Cell type
1	chr7:108143447..108146507-chr7:108154602..108157266,3	MCF-7	breast:
2	chr7:108141868..108144556-chr7:108210151..108212215,2	MCF-7	breast:
3	chr7:108143422..108146244-chr7:108213317..108215644,2	K562	blood:

Variant related genes	Relation type
PNPLA8	TF binding region
ENSG00000128590	Chromatin interaction
ENSG00000177683	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv981569	chr7:108143507-108152160	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108102800-108158400	Weak transcription	HSMMtube	muscle
2	chr7:108105800-108158000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:108106200-108150800	Weak transcription	NHLF	lung
4	chr7:108109000-108162400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:108111400-108154800	Weak transcription	NHEK	skin
6	chr7:108113200-108157000	Weak transcription	Psoas Muscle	Psoas
7	chr7:108113800-108150800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:108113800-108165800	Weak transcription	Gastric	stomach
9	chr7:108114000-108165000	Weak transcription	Colonic Mucosa	Colon
10	chr7:108114400-108160000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:108115200-108151800	Weak transcription	NHDF-Ad	bronchial
12	chr7:108117200-108150600	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:108117200-108151800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:108117800-108164200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:108119200-108157600	Weak transcription	Brain Germinal Matrix	brain
16	chr7:108119800-108144200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:108119800-108144200	Weak transcription	Small Intestine	intestine
18	chr7:108119800-108151000	Weak transcription	Fetal Kidney	kidney
19	chr7:108119800-108151800	Weak transcription	Thymus	Thymus
20	chr7:108119800-108151800	Weak transcription	HMEC	breast
21	chr7:108119800-108154800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:108119800-108158200	Weak transcription	Aorta	Aorta
23	chr7:108121600-108158200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:108122000-108144200	Weak transcription	Fetal Brain Male	brain
25	chr7:108123400-108144800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:108128200-108158000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:108130000-108165000	Weak transcription	Pancreas	Pancrea
28	chr7:108130200-108162000	Weak transcription	Hela-S3	cervix
29	chr7:108130800-108165000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:108132400-108151000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:108132800-108158400	Weak transcription	A549	lung
32	chr7:108133600-108154800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr7:108133600-108155600	Weak transcription	Fetal Heart	heart
34	chr7:108135200-108158000	Weak transcription	Right Ventricle	heart
35	chr7:108135600-108151800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr7:108136000-108163000	Weak transcription	HepG2	liver
37	chr7:108137200-108158200	Weak transcription	NH-A	brain
38	chr7:108137600-108150600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:108138000-108154600	Weak transcription	K562	blood
40	chr7:108140000-108144600	Strong transcription	Primary T cells from cord blood	blood
41	chr7:108140200-108144200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:108140200-108151000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr7:108140600-108157600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr7:108140800-108154400	Weak transcription	HUVEC	blood vessel
45	chr7:108140800-108157600	Weak transcription	Brain Substantia Nigra	brain
46	chr7:108141200-108158200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:108141400-108144000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:108141400-108147400	Weak transcription	Fetal Intestine Small	intestine
49	chr7:108141400-108165000	Weak transcription	Spleen	Spleen
50	chr7:108141600-108150600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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