Variant report

Variant	rs556979917
Chromosome Location	chr5:118860239-118860240
allele	A/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	FOXA2	chr5:118860045-118860631	HepG2	liver:	n/a	n/a
2	HNF4G	chr5:118860153-118860493	HepG2	liver:	n/a	n/a
3	FOXA2	chr5:118859829-118861131	HepG2	liver:	n/a	chr5:118859883-118859895
4	HNF4A	chr5:118860154-118860499	HepG2	liver:	n/a	n/a
5	HDAC2	chr5:118860127-118860472	HepG2	liver:	n/a	chr5:118860213-118860227
6	FOXA1	chr5:118860073-118860639	HepG2	liver:	n/a	n/a
7	NFIC	chr5:118860107-118860524	HepG2	liver:	n/a	n/a
8	FOXA1	chr5:118860098-118860586	HepG2	liver:	n/a	n/a
9	HDAC2	chr5:118860071-118860563	HepG2	liver:	n/a	chr5:118860213-118860227
10	NFIC	chr5:118860108-118860580	HepG2	liver:	n/a	n/a
11	TEAD4	chr5:118860126-118860629	HepG2	liver:	n/a	n/a
12	TCF7L2	chr5:118860072-118860656	HepG2	liver:	n/a	chr5:118860475-118860489 chr5:118860474-118860490 chr5:118860474-118860490 chr5:118860478-118860487
13	EP300	chr5:118860031-118860596	HepG2	liver:	n/a	n/a
14	CEBPB	chr5:118860187-118860486	HepG2	liver:	n/a	chr5:118860206-118860218
15	FOXA1	chr5:118860074-118860506	HepG2	liver:	n/a	n/a
16	FOXA1	chr5:118860032-118860727	HepG2	liver:	n/a	n/a
17	ARID3A	chr5:118860192-118860556	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118828423..118830428-chr5:118858768..118861011,2	K562	blood:

Variant related genes	Relation type
HSD17B4	TF binding region
ENSG00000133835	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv882776	chr5:118859546-118915408	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118794800-118861200	Weak transcription	HSMM	muscle
2	chr5:118804200-118879600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:118832400-118878200	Weak transcription	NH-A	brain
4	chr5:118832600-118868600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:118838000-118869200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:118840200-118878400	Weak transcription	Psoas Muscle	Psoas
7	chr5:118841000-118880000	Weak transcription	Brain Germinal Matrix	brain
8	chr5:118841200-118880000	Weak transcription	A549	lung
9	chr5:118841400-118873200	Weak transcription	Fetal Brain Male	brain
10	chr5:118845800-118868800	Weak transcription	Fetal Heart	heart
11	chr5:118846800-118862800	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:118846800-118878200	Weak transcription	NHLF	lung
13	chr5:118847000-118863000	Weak transcription	NHDF-Ad	bronchial
14	chr5:118847000-118868000	Weak transcription	K562	blood
15	chr5:118847200-118873200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:118847200-118877800	Weak transcription	Small Intestine	intestine
17	chr5:118847200-118878200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:118847200-118879800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:118847400-118861000	Weak transcription	Hela-S3	cervix
20	chr5:118847400-118863000	Weak transcription	HMEC	breast
21	chr5:118847400-118872000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:118847400-118873000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:118847400-118873200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr5:118847400-118873800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:118847400-118875800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr5:118847400-118876000	Weak transcription	Colonic Mucosa	Colon
27	chr5:118847400-118878200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:118847400-118879800	Weak transcription	HSMMtube	muscle
29	chr5:118847600-118863400	Weak transcription	Brain Angular Gyrus	brain
30	chr5:118847600-118865000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:118847600-118873200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:118847600-118873400	Weak transcription	Fetal Muscle Leg	muscle
33	chr5:118847600-118873600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:118847600-118877600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:118847600-118878200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:118847600-118879800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr5:118848000-118863400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr5:118848200-118863200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:118848600-118863800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr5:118850000-118865600	Weak transcription	GM12878-XiMat	blood
41	chr5:118851200-118861200	Weak transcription	HUVEC	blood vessel
42	chr5:118851400-118860400	Weak transcription	Primary B cells from cord blood	blood
43	chr5:118851400-118861000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr5:118851600-118862800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:118851800-118876400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr5:118852000-118861200	Weak transcription	Fetal Thymus	thymus
47	chr5:118852000-118863400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr5:118852400-118862800	Weak transcription	Osteobl	bone
49	chr5:118852400-118863200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr5:118852600-118860800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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