Variant report

Variant	rs73744848
Chromosome Location	chr6:34201407-34201408
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:34201307-34201520	K562	blood:	n/a	n/a
2	POLR2A	chr6:34200608-34205166	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34199862..34202607-chr6:34522713..34524428,2	K562	blood:
2	chr6:34129957..34135547-chr6:34199905..34204260,7	K562	blood:
3	chr6:34198528..34202334-chr6:34358171..34361239,4	K562	blood:
4	chr6:34201303..34203546-chr6:34292849..34294793,2	K562	blood:
5	chr6:34191327..34194039-chr6:34200124..34202308,2	MCF-7	breast:
6	chr6:34128401..34131565-chr6:34200837..34203571,3	K562	blood:
7	chr6:34199984..34203528-chr6:34381840..34383462,3	K562	blood:
8	chr6:34200572..34203532-chr6:34391693..34395651,4	K562	blood:
9	chr6:34199393..34201651-chr6:34633355..34635205,2	K562	blood:
10	chr6:34200640..34204018-chr6:34638884..34642541,3	K562	blood:

No data

Variant related genes	Relation type
HMGA1	TF binding region
ENSG00000124614	Chromatin interaction
ENSG00000124664	Chromatin interaction
ENSG00000272325	Chromatin interaction
ENSG00000270800	Chromatin interaction
ENSG00000196821	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1011905	0.81[AFR][1000 genomes]
rs56298428	1.00[AMR][1000 genomes]
rs56882038	1.00[AMR][1000 genomes]
rs57810619	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57863013	0.86[AFR][1000 genomes]
rs73744829	1.00[AMR][1000 genomes]
rs73744860	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432881	chr6:34026522-34213822	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv885781	chr6:34110257-34247661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv462903	chr6:34110257-34263743	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv602863	chr6:34110257-34263743	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv1816380	chr6:34110880-34206718	Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
6	nsv885782	chr6:34187206-34209516	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv885783	chr6:34187206-34209844	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv885784	chr6:34187206-34246714	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
9	nsv823666	chr6:34201401-34207549	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34192400-34202600	Weak transcription	Right Atrium	heart
2	chr6:34192400-34203400	Weak transcription	Pancreas	Pancrea
3	chr6:34192400-34203600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:34192600-34203600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:34192600-34204400	Weak transcription	HSMMtube	muscle
6	chr6:34192800-34203800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr6:34194400-34203400	Weak transcription	Stomach Mucosa	stomach
8	chr6:34194800-34203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:34195800-34202400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:34195800-34203400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr6:34195800-34203400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr6:34195800-34203400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:34195800-34203400	Weak transcription	A549	lung
14	chr6:34195800-34203600	Weak transcription	Spleen	Spleen
15	chr6:34196000-34202600	Weak transcription	Thymus	Thymus
16	chr6:34196400-34202600	Weak transcription	Primary B cells from cord blood	blood
17	chr6:34196600-34202400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:34197000-34202800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:34197200-34203400	Weak transcription	Fetal Muscle Leg	muscle
20	chr6:34197400-34202400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:34197400-34202600	Weak transcription	Fetal Thymus	thymus
22	chr6:34197400-34203400	Weak transcription	K562	blood
23	chr6:34197400-34203600	Weak transcription	NHLF	lung
24	chr6:34198000-34203400	Weak transcription	GM12878-XiMat	blood
25	chr6:34198200-34203400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:34198400-34202400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:34198400-34203200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:34198800-34203400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:34198800-34203400	Weak transcription	Hela-S3	cervix
30	chr6:34199000-34202600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:34199000-34203000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:34199000-34203400	Weak transcription	Esophagus	oesophagus
33	chr6:34199000-34203400	Weak transcription	HMEC	breast
34	chr6:34199000-34203400	Weak transcription	NH-A	brain
35	chr6:34199000-34203800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:34199200-34203000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:34199200-34203400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr6:34199200-34203400	Weak transcription	NHEK	skin
39	chr6:34199400-34203200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr6:34199600-34203400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr6:34199600-34203600	Weak transcription	Brain Anterior Caudate	brain
42	chr6:34200000-34201800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:34200200-34202600	Weak transcription	Right Ventricle	heart
44	chr6:34200400-34201800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:34200400-34202200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr6:34200600-34201800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:34200600-34202000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr6:34200600-34202000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr6:34200600-34202200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr6:34200800-34201800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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