Variant report

Variant	rs2064640
Chromosome Location	chr6:44077731-44077732
allele	C/T
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	chr6:44069757..44072959-chr6:44076120..44079069,4	MCF-7	breast:
2	chr6:44068030..44072338-chr6:44074661..44078042,4	K562	blood:
3	chr6:44069212..44071574-chr6:44077643..44079819,2	MCF-7	breast:
4	chr6:44076515..44082841-chr6:44082960..44087705,9	MCF-7	breast:
5	chr6:44075555..44078062-chr6:44223665..44227802,3	K562	blood:
6	chr6:44060224..44061946-chr6:44074240..44078220,3	K562	blood:
7	chr6:44075989..44078567-chr6:44228994..44231184,2	MCF-7	breast:
8	chr6:44075851..44077772-chr6:44079320..44082195,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157593	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10948121	1.00[AFR][1000 genomes]
rs12191873	1.00[AFR][1000 genomes]
rs12202501	1.00[AFR][1000 genomes]
rs12206795	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2064639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092870	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2236061	1.00[AFR][1000 genomes]
rs3734697	1.00[AFR][1000 genomes]
rs4628095	1.00[AFR][1000 genomes]
rs4711764	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4711766	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4714738	1.00[AFR][1000 genomes]
rs4714750	1.00[AFR][1000 genomes]
rs4714754	1.00[AFR][1000 genomes]
rs4714759	1.00[AFR][1000 genomes]
rs62401766	1.00[AFR][1000 genomes]
rs62403189	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9349270	1.00[AFR][1000 genomes]
rs9349271	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9349272	1.00[AFR][1000 genomes]
rs9349275	1.00[AFR][1000 genomes]
rs9357432	1.00[AFR][1000 genomes]
rs9369448	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9369449	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs9369450	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9369453	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9369454	1.00[AFR][1000 genomes]
rs9369457	1.00[AFR][1000 genomes]
rs9381287	1.00[AFR][1000 genomes]
rs9381294	1.00[AFR][1000 genomes]
rs9394984	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers 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 target site	27 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	chr6:44055800-44078800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:44056200-44078400	Weak transcription	Fetal Kidney	kidney
3	chr6:44058800-44093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:44059600-44079000	Weak transcription	Small Intestine	intestine
5	chr6:44066000-44081400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:44066000-44091000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:44066400-44082200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:44066800-44079400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:44067000-44084200	Strong transcription	Brain Germinal Matrix	brain
10	chr6:44067000-44084400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:44067200-44085000	Strong transcription	Dnd41	blood
12	chr6:44067600-44079600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:44069000-44078600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:44070000-44083200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:44070400-44084000	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:44070600-44084000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:44070800-44079600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:44070800-44084200	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:44071000-44081600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:44071000-44084600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:44071200-44080000	Strong transcription	Gastric	stomach
22	chr6:44071200-44083400	Strong transcription	Fetal Thymus	thymus
23	chr6:44071200-44084200	Strong transcription	Fetal Brain Female	brain
24	chr6:44071200-44084600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:44071200-44084600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr6:44071200-44086400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:44071400-44078000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr6:44071400-44082200	Strong transcription	Primary B cells from cord blood	blood
29	chr6:44071400-44083800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr6:44071400-44083800	Strong transcription	Primary T cells from cord blood	blood
31	chr6:44071400-44084400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:44071400-44084400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr6:44071600-44081800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:44071600-44083200	Strong transcription	K562	blood
35	chr6:44071600-44084000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:44071600-44084200	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr6:44071600-44084400	Strong transcription	GM12878-XiMat	blood
38	chr6:44071800-44083600	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr6:44071800-44084000	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr6:44071800-44084400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:44072200-44078200	Weak transcription	Brain Angular Gyrus	brain
42	chr6:44072400-44078200	Weak transcription	NHDF-Ad	bronchial
43	chr6:44072400-44081400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr6:44072600-44077800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr6:44072600-44079000	Weak transcription	Fetal Brain Male	brain
46	chr6:44072800-44078600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr6:44073000-44081000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr6:44073200-44077800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:44073200-44078000	Weak transcription	Colon Smooth Muscle	Colon
50	chr6:44073200-44084400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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