Variant report

Variant	rs1026422
Chromosome Location	chr7:50319807-50319808
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50318524..50321328-chr7:50323500..50326189,2	K562	blood:
2	chr7:50314396..50317367-chr7:50319243..50321991,2	K562	blood:

Variant related genes	Relation type
ENSG00000235620	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1026423	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10276619	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11185602	0.93[ASN][1000 genomes]
rs12718257	0.89[ASN][1000 genomes]
rs1456895	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17552904	0.94[ASN][1000 genomes]
rs17634369	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1870027	0.85[ASN][1000 genomes]
rs2219345	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4598207	0.90[ASN][1000 genomes]
rs4917015	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4917129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55935382	0.93[ASN][1000 genomes]
rs62445350	0.94[ASN][1000 genomes]
rs62447171	0.94[ASN][1000 genomes]
rs6964608	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs876036	0.88[ASN][1000 genomes]
rs876037	0.94[ASN][1000 genomes]
rs876038	0.94[ASN][1000 genomes]
rs876039	0.94[ASN][1000 genomes]
rs921913	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs921914	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9649710	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1024102	chr7:50195864-50418159	Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50310600-50320800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:50314600-50320600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:50314600-50320600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:50314600-50321000	Weak transcription	Thymus	Thymus
5	chr7:50314600-50324800	Weak transcription	Spleen	Spleen
6	chr7:50314800-50320200	Weak transcription	Primary T cells from cord blood	blood
7	chr7:50314800-50320400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr7:50315200-50320400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr7:50315200-50320400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:50315600-50320600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr7:50316200-50320600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:50316600-50320400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:50316800-50320400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:50317000-50320800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:50317200-50320200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr7:50317200-50320600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr7:50317400-50320000	Weak transcription	Primary B cells from cord blood	blood
18	chr7:50317600-50320600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:50318800-50320200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:50319800-50320000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr7:50319800-50320400	Enhancers	GM12878-XiMat	blood

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