Variant report

Variant	rs144999369
Chromosome Location	chr7:112577955-112577956
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112442436..112445188-chr7:112575668..112578638,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2754368	chr7:112483049-112588049	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3692941	chr7:112571420-112614215	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
7	esv1795316	chr7:112577657-112588734	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv1027981	chr7:112577657-112613212	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112541400-112578800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:112551600-112578600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr7:112551600-112579400	Weak transcription	Spleen	Spleen
4	chr7:112553800-112578800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:112555400-112578000	Weak transcription	Adipose Nuclei	Adipose
6	chr7:112557000-112578600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr7:112563200-112578200	Weak transcription	HUVEC	blood vessel
8	chr7:112565200-112578600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:112568400-112578200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:112570400-112578400	Weak transcription	NH-A	brain
11	chr7:112571200-112578200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:112571200-112578200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr7:112571400-112578800	Weak transcription	Psoas Muscle	Psoas
14	chr7:112571600-112578200	Weak transcription	Fetal Muscle Leg	muscle
15	chr7:112571600-112578200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:112571600-112578800	Weak transcription	Small Intestine	intestine
17	chr7:112571800-112578200	Weak transcription	Brain Substantia Nigra	brain
18	chr7:112572200-112578400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:112573200-112578200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:112573200-112578200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:112573200-112578800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr7:112573200-112578800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:112573400-112578200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:112573800-112578400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:112574000-112578200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:112574000-112578200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:112575200-112578200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr7:112575600-112578600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:112575600-112579200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr7:112575800-112578000	Active TSS	GM12878-XiMat	blood
31	chr7:112575800-112578800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr7:112576000-112578600	Weak transcription	Placenta	Placenta
33	chr7:112576200-112578200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr7:112576200-112578600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr7:112576200-112578600	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr7:112576400-112578200	Enhancers	Fetal Heart	heart
37	chr7:112576400-112578200	Enhancers	Fetal Intestine Small	intestine
38	chr7:112576400-112578200	Enhancers	Fetal Lung	lung
39	chr7:112576400-112578600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:112576400-112578800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:112576600-112578200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr7:112576600-112578200	Enhancers	Fetal Intestine Large	intestine
43	chr7:112576600-112578400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr7:112576600-112578400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:112576600-112578600	Weak transcription	Ovary	ovary
46	chr7:112576600-112578800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:112576600-112578800	Weak transcription	Esophagus	oesophagus
48	chr7:112576600-112578800	Weak transcription	Gastric	stomach
49	chr7:112576800-112578000	Enhancers	HMEC	breast
50	chr7:112576800-112578800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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