Variant report

Variant	rs75728639
Chromosome Location	chr6:147531091-147531092
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147223268..147225541-chr6:147530064..147532627,3	K562	blood:
2	chr6:147223063..147225142-chr6:147528018..147531876,3	K562	blood:
3	chr6:147177011..147178784-chr6:147528174..147531299,3	K562	blood:
4	chr6:147476130..147479059-chr6:147530096..147532548,2	K562	blood:
5	chr6:147471031..147473027-chr6:147529054..147531179,2	K562	blood:

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	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1820434	chr6:147518489-147543262	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv886753	chr6:147526508-147680291	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	esv274916	chr6:147530754-147539570	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147526000-147543400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:147526000-147543400	Weak transcription	Pancreas	Pancrea
3	chr6:147526000-147572200	Weak transcription	Lung	lung
4	chr6:147526200-147533800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:147526400-147539600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:147526400-147543200	Weak transcription	Stomach Mucosa	stomach
7	chr6:147526400-147543400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:147526400-147543400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:147527200-147531200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr6:147527200-147531200	Weak transcription	Fetal Lung	lung
11	chr6:147527200-147531600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:147527200-147534400	Weak transcription	Psoas Muscle	Psoas
13	chr6:147527200-147539600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:147527200-147539600	Weak transcription	Thymus	Thymus
15	chr6:147527200-147543400	Weak transcription	Fetal Thymus	thymus
16	chr6:147527200-147543600	Weak transcription	Fetal Muscle Leg	muscle
17	chr6:147527200-147544400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr6:147527200-147547400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:147527200-147548400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr6:147527200-147549000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:147527200-147557800	Weak transcription	Fetal Stomach	stomach
22	chr6:147527200-147570000	Weak transcription	Left Ventricle	heart
23	chr6:147527200-147572000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:147527200-147572200	Weak transcription	Esophagus	oesophagus
25	chr6:147527400-147532000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr6:147527400-147533000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr6:147527400-147539600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr6:147527400-147540200	Weak transcription	Fetal Kidney	kidney
29	chr6:147527400-147543000	Weak transcription	Fetal Intestine Small	intestine
30	chr6:147527400-147543200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:147527400-147543200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:147527400-147558800	Weak transcription	Primary B cells from cord blood	blood
33	chr6:147527400-147563800	Weak transcription	NH-A	brain
34	chr6:147527400-147566800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:147527400-147576400	Weak transcription	HSMMtube	muscle
36	chr6:147527600-147549200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr6:147527600-147559600	Weak transcription	Colon Smooth Muscle	Colon
38	chr6:147527800-147539600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr6:147527800-147539800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:147527800-147543000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:147527800-147586800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:147528000-147533000	Weak transcription	Primary T cells from cord blood	blood
43	chr6:147528000-147543200	Weak transcription	HepG2	liver
44	chr6:147528200-147551800	Weak transcription	HUVEC	blood vessel
45	chr6:147528400-147531400	Transcr. at gene 5' and 3'	K562	blood
46	chr6:147528800-147533000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr6:147528800-147539600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:147528800-147545000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:147528800-147549000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr6:147528800-147565800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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