Variant report

Variant	rs73407717
Chromosome Location	chr6:34482351-34482352
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	SIN3AK20	chr6:34482318-34482689	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr6:34482170-34483111	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr6:34482340-34482583	K562	blood:	n/a	n/a
4	CTCF	chr6:34482340-34482641	K562	blood:	n/a	n/a
5	ZNF143	chr6:34482123-34482872	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr6:34482339-34482618	K562	blood:	n/a	n/a
7	TAF1	chr6:34482293-34482980	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr6:34482242-34482938	H1-neurons	neurons:	n/a	n/a
9	RAD21	chr6:34482335-34482644	K562	blood:	n/a	n/a
10	MAX	chr6:34482310-34482713	K562	blood:	n/a	chr6:34482547-34482556
11	MXI1	chr6:34482339-34482569	H1-hESC	embryonic stem cell:	n/a	chr6:34482545-34482560 chr6:34482547-34482562
12	REST	chr6:34481947-34483279	H1-neurons	neurons:	n/a	chr6:34483142-34483155
13	CTBP2	chr6:34482182-34482985	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAZ	chr6:34482302-34482964	IMR90	lung:	n/a	chr6:34482547-34482556
15	CTCF	chr6:34482326-34482672	K562	blood:	n/a	n/a
16	BHLHE40	chr6:34481627-34482576	K562	blood:	n/a	n/a
17	SMC3	chr6:34482330-34482634	K562	blood:	n/a	n/a
18	POLR2A	chr6:34482306-34482956	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34433077..34435730-chr6:34480474..34482366,2	K562	blood:

Variant related genes	Relation type
PACSIN1	TF binding region
ENSG00000124507	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs56658381	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56921035	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57018638	1.00[AMR][1000 genomes]
rs60368173	1.00[AMR][1000 genomes]
rs60416772	1.00[AMR][1000 genomes]
rs60916679	1.00[AMR][1000 genomes]
rs73405687	1.00[AMR][1000 genomes]
rs73405701	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73407703	1.00[AMR][1000 genomes]
rs73407704	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73407709	1.00[AMR][1000 genomes]
rs7745896	1.00[AMR][1000 genomes]
rs7755392	1.00[AMR][1000 genomes]
rs7755546	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS 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 target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS 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	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv462904	chr6:34416388-34493012	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv602903	chr6:34416388-34493012	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv885786	chr6:34426884-34542662	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
9	esv1813536	chr6:34455242-34545123	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv885787	chr6:34458533-34546560	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	nsv885788	chr6:34464010-34551912	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
12	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv885789	chr6:34474939-34546560	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
14	nsv1033325	chr6:34482287-34517857	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34441400-34494000	Weak transcription	Right Atrium	heart
2	chr6:34479000-34485200	Enhancers	Fetal Brain Male	brain
3	chr6:34479600-34482400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr6:34480400-34482600	Enhancers	K562	blood
5	chr6:34480800-34482400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:34481600-34482400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr6:34481600-34482400	Enhancers	Brain Anterior Caudate	brain
8	chr6:34481800-34482400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:34482000-34482400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:34482000-34482400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr6:34482000-34482400	Weak transcription	Brain Angular Gyrus	brain
12	chr6:34482000-34482800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:34482000-34483000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr6:34482000-34483000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr6:34482200-34482400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr6:34482200-34482400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:34482200-34482400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:34482200-34482400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:34482200-34482400	Flanking Active TSS	Fetal Brain Female	brain
20	chr6:34482200-34482600	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr6:34482200-34482600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr6:34482200-34483000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
23	chr6:34482200-34483000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:34482200-34483000	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr6:34482200-34483000	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr6:34482200-34483000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:34482200-34483200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:34482200-34483200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr6:34482200-34483200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:34482200-34483200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:34482200-34483400	Active TSS	H9 Cell Line	embryonic stem cell
32	chr6:34482200-34484400	Active TSS	Brain Cingulate Gyrus	brain
33	chr6:34482200-34484400	Flanking Active TSS	Brain Germinal Matrix	brain

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