Variant report

Variant	rs7750697
Chromosome Location	chr6:4138242-4138243
allele	C/T
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	YY1	chr6:4138036-4138284	K562	blood:	n/a	chr6:4138155-4138177 chr6:4138166-4138175

No.	Distal block	Cell Line	Cell type
1	chr6:4016355..4024618-chr6:4131840..4138381,21	K562	blood:
2	chr6:4138005..4140157-chr6:4146281..4148014,2	K562	blood:
3	chr6:4017302..4025509-chr6:4131840..4138381,19	K562	blood:

Variant related genes	Relation type
ECI2	TF binding region
ENSG00000112739	Chromatin interaction
ENSG00000272248	Chromatin interaction
ENSG00000230648	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13437287	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13437318	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6908189	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6910161	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6910963	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6936595	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6936972	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7761323	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7770168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9502119	1.00[AMR][1000 genomes]
rs9502121	1.00[AMR][1000 genomes]
rs9502123	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9502124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9503920	1.00[AMR][1000 genomes]
rs9503928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9503929	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9503930	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9503931	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9503932	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9503935	0.92[AFR][1000 genomes];1.00[AMR][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	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1030104	chr6:4062894-4240269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	24 gene(s)	inside rSNPs	diseases
5	esv2422231	chr6:4100333-4233454	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	esv2422457	chr6:4100333-4377396	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4136800-4139400	Enhancers	Fetal Thymus	thymus
2	chr6:4136800-4148400	Weak transcription	Pancreas	Pancrea
3	chr6:4137000-4138400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr6:4137000-4138400	Enhancers	Fetal Intestine Small	intestine
5	chr6:4137000-4138600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr6:4137000-4138800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:4137000-4139200	Weak transcription	Spleen	Spleen
8	chr6:4137000-4139400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr6:4137000-4139400	Enhancers	Thymus	Thymus
10	chr6:4137000-4139600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:4137200-4138600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr6:4137200-4138600	Weak transcription	Dnd41	blood
13	chr6:4137200-4139400	Weak transcription	Stomach Mucosa	stomach
14	chr6:4137200-4139600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:4137200-4156000	Weak transcription	Brain Anterior Caudate	brain
16	chr6:4137400-4140000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:4137400-4144400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:4137600-4138800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr6:4138200-4138400	Enhancers	HSMMtube	muscle

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