Variant report

Variant	rs114649954
Chromosome Location	chr5:112256197-112256198
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	chr5:112255914..112262078-chr5:112308752..112315375,16	MCF-7	breast:
2	chr5:112254440..112257035-chr5:112267383..112269669,3	K562	blood:
3	chr5:112253961..112259306-chr5:112310933..112315767,8	K562	blood:
4	chr5:112255746..112257849-chr5:112312359..112314246,3	MCF-7	breast:
5	chr5:112254019..112256413-chr5:112263500..112265377,2	MCF-7	breast:
6	chr5:112195239..112200315-chr5:112255126..112261929,8	MCF-7	breast:
7	chr5:112132025..112134986-chr5:112254619..112257174,2	K562	blood:
8	chr5:112255209..112259355-chr5:112310614..112316433,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153037	Chromatin interaction
ENSG00000172795	Chromatin interaction
ENSG00000272869	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529536	chr5:112174106-112269758	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2763866	chr5:112254282-112284223	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3393782	chr5:112256103-112258601	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112211600-112256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:112212200-112256400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:112221800-112256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:112222000-112256400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:112223000-112256400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:112223000-112256600	Weak transcription	Thymus	Thymus
7	chr5:112229600-112256600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:112242600-112256800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:112251200-112256200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:112251600-112256200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:112251600-112256200	Genic enhancers	Adipose Nuclei	Adipose
12	chr5:112251600-112256400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr5:112253000-112256600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr5:112253200-112256200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:112253200-112256200	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr5:112253200-112256400	Genic enhancers	Fetal Lung	lung
17	chr5:112253600-112256200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr5:112254200-112256400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr5:112254400-112256400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:112254400-112256400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:112254400-112256400	Weak transcription	Stomach Mucosa	stomach
22	chr5:112254600-112256400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:112254600-112256400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr5:112254600-112256400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:112254600-112256400	Weak transcription	Aorta	Aorta
26	chr5:112254600-112256400	Weak transcription	Fetal Kidney	kidney
27	chr5:112254600-112256400	Weak transcription	Gastric	stomach
28	chr5:112254600-112256400	Weak transcription	Psoas Muscle	Psoas
29	chr5:112254600-112256400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr5:112254600-112256400	Weak transcription	HSMMtube	muscle
31	chr5:112254600-112256400	Weak transcription	K562	blood
32	chr5:112254600-112256600	Weak transcription	Fetal Thymus	thymus
33	chr5:112254600-112256600	Weak transcription	Small Intestine	intestine
34	chr5:112254600-112256600	Weak transcription	Spleen	Spleen
35	chr5:112254800-112256200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:112254800-112256200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:112254800-112256400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr5:112254800-112256400	Enhancers	Brain Cingulate Gyrus	brain
39	chr5:112254800-112256400	Weak transcription	Colonic Mucosa	Colon
40	chr5:112254800-112256800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr5:112255000-112256400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr5:112255000-112256400	Enhancers	Fetal Brain Male	brain
43	chr5:112255200-112256200	Enhancers	Fetal Brain Female	brain
44	chr5:112255200-112256400	Enhancers	Primary T cells from cord blood	blood
45	chr5:112255200-112256400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:112255200-112256400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr5:112255200-112256600	Weak transcription	Esophagus	oesophagus
48	chr5:112255400-112256400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:112255400-112256400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr5:112255400-112256400	Weak transcription	Right Atrium	heart

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