Variant report

Variant	rs2070695
Chromosome Location	chr6:44219710-44219711
allele	A/C
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	chr6:44086896..44089729-chr6:44217507..44220003,2	K562	blood:
2	chr6:44218284..44220529-chr6:44245737..44248660,2	MCF-7	breast:
3	chr6:44189603..44194222-chr6:44219459..44225598,7	MCF-7	breast:
4	chr17:46185336..46187355-chr6:44217982..44220067,2	MCF-7	breast:
5	chr4:70555494..70558474-chr6:44219167..44221609,2	K562	blood:
6	chr6:44093312..44099146-chr6:44212809..44220233,13	MCF-7	breast:
7	chr6:44133200..44145960-chr6:44211718..44220192,28	K562	blood:
8	chr6:43610212..43612604-chr6:44219697..44221685,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137216	Chromatin interaction
ENSG00000112759	Chromatin interaction
ENSG00000137225	Chromatin interaction
ENSG00000180992	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12202977	0.81[ASN][1000 genomes]
rs12216216	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1570920	0.81[ASN][1000 genomes]
rs2894567	0.89[ASN][1000 genomes]
rs3187	0.82[ASN][1000 genomes]
rs3734704	0.89[ASN][1000 genomes]
rs3757280	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3757285	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3757286	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs495061	0.90[ASN][1000 genomes]
rs666462	0.90[ASN][1000 genomes]
rs9367189	0.93[ASN][1000 genomes]
rs9367190	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9381299	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9381303	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv885852	chr6:44185901-44222718	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers 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 miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
7	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
10	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
12	nsv969396	chr6:44216621-44221180	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44214800-44220200	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
2	chr6:44215000-44220000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
3	chr6:44215800-44221400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
4	chr6:44216200-44223800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
5	chr6:44216400-44220200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:44216600-44223200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:44216600-44223400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr6:44216600-44223400	Strong transcription	Fetal Kidney	kidney
9	chr6:44216800-44222000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:44216800-44223200	Strong transcription	Aorta	Aorta
11	chr6:44216800-44223400	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:44217000-44221800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:44217000-44222200	Strong transcription	Primary B cells from cord blood	blood
14	chr6:44217000-44223200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:44217000-44223200	Strong transcription	Esophagus	oesophagus
16	chr6:44217000-44223200	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr6:44217200-44220600	Strong transcription	Brain Germinal Matrix	brain
18	chr6:44217200-44221200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr6:44217200-44221200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:44217200-44221400	Genic enhancers	Left Ventricle	heart
21	chr6:44217200-44222000	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr6:44217200-44222000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:44217200-44222000	Strong transcription	Spleen	Spleen
24	chr6:44217200-44222200	Strong transcription	Fetal Intestine Small	intestine
25	chr6:44217200-44222200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr6:44217200-44222400	Strong transcription	Gastric	stomach
27	chr6:44217200-44222400	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr6:44217200-44222600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr6:44217200-44222800	Strong transcription	Fetal Muscle Leg	muscle
30	chr6:44217200-44223200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:44217200-44223200	Strong transcription	Colon Smooth Muscle	Colon
32	chr6:44217200-44223400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:44217200-44223600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:44217200-44223600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr6:44217200-44223800	Strong transcription	Placenta	Placenta
36	chr6:44217200-44223800	Strong transcription	Fetal Stomach	stomach
37	chr6:44217200-44223800	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr6:44217400-44220000	Genic enhancers	Brain Cingulate Gyrus	brain
39	chr6:44217400-44221000	Weak transcription	Stomach Mucosa	stomach
40	chr6:44217400-44221800	Strong transcription	Primary hematopoietic stem cells	blood
41	chr6:44217400-44222200	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr6:44217400-44223000	Strong transcription	Small Intestine	intestine
43	chr6:44217400-44223000	Genic enhancers	HepG2	liver
44	chr6:44217400-44223200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr6:44217400-44223200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:44217400-44223200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr6:44217400-44223200	Strong transcription	Primary T cells from cord blood	blood
48	chr6:44217400-44223200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr6:44217400-44223200	Strong transcription	NHDF-Ad	bronchial
50	chr6:44217400-44223400	Strong transcription	Fetal Lung	lung

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