Variant report

Variant	rs530688450
Chromosome Location	chr6:34841813-34841814
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34840841..34842858-chr6:34847132..34849372,2	MCF-7	breast:
2	chr6:34759417..34761331-chr6:34840362..34841863,2	K562	blood:
3	chr6:34839241..34842901-chr6:34854302..34857517,4	MCF-7	breast:
4	chr6:34825507..34827584-chr6:34840818..34842443,2	MCF-7	breast:
5	chr6:34759044..34761512-chr6:34840299..34841904,2	K562	blood:

Variant related genes	Relation type
ENSG00000064999	Chromatin interaction
ENSG00000064995	Chromatin interaction
ENSG00000065060	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv870010	chr6:34713359-34880048	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv1025374	chr6:34723723-34887316	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv462905	chr6:34728253-34886436	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv602906	chr6:34728253-34886436	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv1028363	chr6:34733071-34859045	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv1015792	chr6:34741917-34887316	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1021733	chr6:34751052-34887316	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
15	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
16	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
17	nsv508402	chr6:34840961-34951288	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34816800-34853600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:34817400-34851200	Strong transcription	Fetal Thymus	thymus
3	chr6:34818600-34853400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:34819000-34842600	Strong transcription	Fetal Intestine Small	intestine
5	chr6:34820200-34855000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:34821000-34854600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:34822800-34849400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr6:34823000-34851600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:34825800-34847600	Weak transcription	NHDF-Ad	bronchial
10	chr6:34830000-34855000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:34830800-34848400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:34831400-34849400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:34834400-34849000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:34834400-34851200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:34834400-34853600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr6:34834600-34843600	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr6:34834600-34843800	Strong transcription	K562	blood
18	chr6:34834600-34849800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:34834800-34850200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:34835000-34842800	Strong transcription	Fetal Stomach	stomach
21	chr6:34835000-34843200	Strong transcription	Fetal Intestine Large	intestine
22	chr6:34835000-34843200	Strong transcription	Lung	lung
23	chr6:34835000-34843600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:34835000-34843800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:34835000-34846000	Strong transcription	HepG2	liver
26	chr6:34835000-34848000	Strong transcription	Fetal Brain Female	brain
27	chr6:34835000-34848000	Strong transcription	Thymus	Thymus
28	chr6:34835000-34848200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr6:34835000-34848200	Strong transcription	Fetal Muscle Leg	muscle
30	chr6:34835000-34849200	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:34835000-34849400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:34835000-34849400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:34835200-34848000	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr6:34835200-34848600	Strong transcription	Brain Cingulate Gyrus	brain
35	chr6:34835400-34849000	Strong transcription	Adipose Nuclei	Adipose
36	chr6:34835400-34849400	Strong transcription	Liver	Liver
37	chr6:34835600-34845400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr6:34835800-34847600	Weak transcription	A549	lung
39	chr6:34835800-34855200	Weak transcription	Small Intestine	intestine
40	chr6:34836600-34843400	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr6:34836600-34849200	Strong transcription	Dnd41	blood
42	chr6:34836800-34849600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr6:34837000-34843000	Strong transcription	Placenta	Placenta
44	chr6:34837000-34844600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr6:34837000-34849000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr6:34837000-34852000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:34837000-34852400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr6:34837200-34843200	Weak transcription	Psoas Muscle	Psoas
49	chr6:34837400-34843200	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr6:34837400-34851200	Strong transcription	Primary monocytes fromperipheralblood	blood

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