Variant report

Variant	rs541380749
Chromosome Location	chr7:128980728-128980729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128978589..128981283-chr7:128984289..128985895,2	K562	blood:
2	chr7:128980529..128982455-chr7:129080074..129082232,2	K562	blood:
3	chr7:128980076..128982455-chr7:129080732..129082646,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525482	chr7:128890812-129045191	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv516498	chr7:128901429-129072024	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv3331483	chr7:128918442-129082887	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv428508	chr7:128946738-129114691	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv608419	chr7:128980494-128996268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128958000-128981000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:128964200-128981000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr7:128964600-128981000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr7:128965200-128984200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:128965400-128994600	Weak transcription	Primary B cells from cord blood	blood
6	chr7:128965800-128980800	Weak transcription	Fetal Intestine Small	intestine
7	chr7:128965800-128995800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:128972600-128981200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:128972800-128984000	Weak transcription	HSMMtube	muscle
10	chr7:128972800-128984200	Weak transcription	HSMM	muscle
11	chr7:128973200-128984000	Weak transcription	NHEK	skin
12	chr7:128973400-128991000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:128973600-128982800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:128975000-129002600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:128975800-128980800	Weak transcription	Primary T cells from cord blood	blood
16	chr7:128978400-128981000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:128979600-128985800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:128979600-128991400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:128980600-128981800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr7:128980600-128982000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:128980600-128982000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:128980600-128982200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:128980600-128982600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:128980600-128982600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr7:128980600-128982600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:128980600-128982800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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