Variant report

Variant	rs7750723
Chromosome Location	chr6:44196950-44196951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:44196622-44198416	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr6:44196690-44197097	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:44092682..44101478-chr6:44189085..44198306,11	K562	blood:
2	chr6:44194649..44200475-chr6:44213732..44216333,8	MCF-7	breast:
3	chr6:44050431..44053412-chr6:44195208..44197265,2	K562	blood:
4	chr6:44141170..44144134-chr6:44195392..44197157,2	MCF-7	breast:

Variant related genes	Relation type
SLC29A1	TF binding region
ENSG00000180992	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000137216	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2233423	1.00[ASN][1000 genomes]
rs28362860	1.00[ASN][1000 genomes]
rs73733886	0.86[EUR][1000 genomes]
rs7738226	0.93[EUR][1000 genomes]

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	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

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44191600-44205000	Weak transcription	Small Intestine	intestine
2	chr6:44192000-44197000	Enhancers	Pancreas	Pancrea
3	chr6:44192200-44197000	Enhancers	Psoas Muscle	Psoas
4	chr6:44192200-44197200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr6:44192200-44204800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:44192400-44199200	Enhancers	Liver	Liver
7	chr6:44192400-44201200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:44192400-44201400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:44192400-44205000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:44192600-44197000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:44192600-44197600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:44192600-44197600	Weak transcription	Esophagus	oesophagus
13	chr6:44192600-44199200	Weak transcription	Fetal Brain Female	brain
14	chr6:44192800-44200800	Weak transcription	Primary T cells from cord blood	blood
15	chr6:44193200-44198200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:44193200-44204800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:44194000-44197400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:44194000-44199800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr6:44194200-44198600	Weak transcription	GM12878-XiMat	blood
20	chr6:44194400-44197200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr6:44194400-44197200	Enhancers	NHDF-Ad	bronchial
22	chr6:44194400-44202000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr6:44194600-44200200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:44194600-44201000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr6:44194600-44202000	Weak transcription	Primary B cells from cord blood	blood
26	chr6:44194800-44199200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr6:44194800-44199400	Weak transcription	HSMMtube	muscle
28	chr6:44194800-44199600	Weak transcription	Hela-S3	cervix
29	chr6:44194800-44200000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr6:44194800-44201600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr6:44194800-44202400	Weak transcription	Fetal Kidney	kidney
32	chr6:44195000-44197000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:44195000-44198200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
34	chr6:44195000-44202200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:44195000-44202800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr6:44195200-44197200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:44195200-44199000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:44195200-44201400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
39	chr6:44195200-44201800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:44195200-44202200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
41	chr6:44195200-44202600	Strong transcription	Dnd41	blood
42	chr6:44195400-44197000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr6:44195400-44197400	Enhancers	Left Ventricle	heart
44	chr6:44195400-44197800	Genic enhancers	Fetal Muscle Leg	muscle
45	chr6:44195400-44198200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:44195400-44198400	Enhancers	HMEC	breast
47	chr6:44195400-44199800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:44195400-44201400	Weak transcription	Stomach Mucosa	stomach
49	chr6:44195400-44201600	Weak transcription	Fetal Lung	lung
50	chr6:44195400-44202200	Weak transcription	Brain Germinal Matrix	brain

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