Variant report

Variant	rs34444443
Chromosome Location	chr7:6417203-6417204
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6413015..6417903-chr7:6435938..6439469,5	MCF-7	breast:
2	chr7:6414882..6417650-chr7:6542443..6546000,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136238	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10234438	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10238136	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10270289	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12977	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2347338	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28421827	0.88[ASN][1000 genomes]
rs34326300	0.94[ASN][1000 genomes]
rs34353637	0.94[ASN][1000 genomes]
rs34418095	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34521445	0.94[ASN][1000 genomes]
rs34593300	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34610704	0.94[ASN][1000 genomes]
rs34638150	0.86[ASN][1000 genomes]
rs35109494	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35130552	0.94[ASN][1000 genomes]
rs35149708	0.94[ASN][1000 genomes]
rs35156887	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35551995	0.94[ASN][1000 genomes]
rs35981225	0.94[ASN][1000 genomes]
rs68158432	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6950333	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954996	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6967221	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active 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 miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription 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 lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv605999	chr7:6396719-6472881	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr7:6415600-6417800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:6415600-6418000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr7:6415600-6418200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:6415600-6423800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:6415800-6417400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr7:6415800-6417600	Enhancers	Brain Angular Gyrus	brain
7	chr7:6415800-6417600	Enhancers	Fetal Kidney	kidney
8	chr7:6415800-6417800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr7:6415800-6417800	Enhancers	Fetal Heart	heart
10	chr7:6415800-6417800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr7:6415800-6418000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr7:6415800-6418000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr7:6415800-6418800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:6415800-6419400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:6415800-6419400	Weak transcription	Aorta	Aorta
16	chr7:6415800-6419600	Weak transcription	HSMMtube	muscle
17	chr7:6415800-6422400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:6415800-6422600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:6415800-6427400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:6416000-6417400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:6416000-6417800	Enhancers	Fetal Intestine Large	intestine
22	chr7:6416000-6418400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr7:6416000-6418400	Enhancers	Primary T cells from cord blood	blood
24	chr7:6416000-6419600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:6416000-6424800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:6416200-6417400	Enhancers	Fetal Muscle Leg	muscle
27	chr7:6416200-6417800	Genic enhancers	Fetal Thymus	thymus
28	chr7:6416200-6418000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:6416200-6418800	Enhancers	Primary B cells from cord blood	blood
30	chr7:6416200-6421200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr7:6416200-6422600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr7:6416400-6417800	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr7:6416400-6418400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr7:6416400-6420600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:6416400-6422400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:6416600-6417400	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr7:6416600-6417600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:6416600-6417600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr7:6416600-6417800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:6416600-6417800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:6416600-6417800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr7:6416600-6417800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr7:6416600-6417800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr7:6416600-6417800	Genic enhancers	Fetal Brain Female	brain
45	chr7:6416600-6417800	Genic enhancers	Gastric	stomach
46	chr7:6416600-6417800	Genic enhancers	Small Intestine	intestine
47	chr7:6416600-6418000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
48	chr7:6416600-6423800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:6416800-6417600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:6416800-6417600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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