Variant report

Variant	rs2853235
Chromosome Location	chr8:103265132-103265133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:103259912-103266697	K562	blood:	n/a	n/a
2	POLR2A	chr8:103265030-103265230	GM12878	blood:	n/a	n/a
3	GATA3	chr8:103264964-103265164	SH-SY5Y	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103265116..103266649-chr8:103292317..103294443,2	MCF-7	breast:
2	chr8:103249647..103255113-chr8:103258766..103269094,16	K562	blood:
3	chr8:103264576..103266610-chr8:103309691..103311939,2	K562	blood:
4	chr8:103262508..103264248-chr8:103264645..103267058,2	MCF-7	breast:
5	chr8:103264377..103266813-chr8:103423713..103425387,2	K562	blood:
6	chr8:103258939..103262052-chr8:103262639..103266596,4	MCF-7	breast:
7	chr8:103249978..103252150-chr8:103263315..103266175,4	K562	blood:
8	chr8:103264839..103268068-chr8:103274584..103278724,3	MCF-7	breast:
9	chr8:103264635..103266351-chr8:103274811..103276360,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KB-1980E6.3.1-1	chr8:103264027-103265561	ENSG00000246263.2

No data

Variant related genes	Relation type
ENSG00000272037	TF binding region
ENSG00000253328	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1265116	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1265118	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17435369	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17512088	1.00[CEU][hapmap]
rs17526503	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2015704	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2045412	0.82[CEU][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2168690	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445947	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2512410	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2512411	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2607661	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2853230	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2925781	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2925790	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2978431	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3018505	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3018508	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58013140	0.83[AFR][1000 genomes]
rs58217487	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61149171	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6988618	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6996619	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7840833	1.00[CEU][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv891242	chr8:103210971-103282418	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv891243	chr8:103219629-103292724	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103252000-103268400	Weak transcription	Small Intestine	intestine
2	chr8:103252200-103268800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:103252200-103269400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:103252200-103273600	Weak transcription	Esophagus	oesophagus
5	chr8:103252200-103273600	Weak transcription	Spleen	Spleen
6	chr8:103252200-103273800	Weak transcription	Lung	lung
7	chr8:103252200-103292800	Weak transcription	Gastric	stomach
8	chr8:103252200-103318800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:103252400-103265200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:103252400-103266200	Weak transcription	Brain Angular Gyrus	brain
11	chr8:103252400-103266200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:103252400-103266200	Weak transcription	Left Ventricle	heart
13	chr8:103252400-103266200	Weak transcription	HSMMtube	muscle
14	chr8:103252400-103268800	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:103252400-103269200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:103252400-103271800	Weak transcription	Right Ventricle	heart
17	chr8:103252400-103272000	Weak transcription	Fetal Stomach	stomach
18	chr8:103252400-103273800	Weak transcription	Pancreas	Pancrea
19	chr8:103252400-103276000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:103252400-103280200	Weak transcription	Aorta	Aorta
21	chr8:103252400-103292400	Weak transcription	Psoas Muscle	Psoas
22	chr8:103252600-103265200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:103252600-103266200	Weak transcription	Brain Substantia Nigra	brain
24	chr8:103252600-103267800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr8:103252600-103268400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:103252600-103268800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr8:103252600-103268800	Weak transcription	Thymus	Thymus
28	chr8:103252600-103276000	Weak transcription	Stomach Mucosa	stomach
29	chr8:103252600-103280000	Weak transcription	Fetal Brain Male	brain
30	chr8:103252800-103265600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:103252800-103265800	Weak transcription	Fetal Brain Female	brain
32	chr8:103252800-103265800	Weak transcription	Fetal Heart	heart
33	chr8:103252800-103266200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:103252800-103266200	Weak transcription	Colonic Mucosa	Colon
35	chr8:103252800-103266200	Weak transcription	A549	lung
36	chr8:103252800-103266600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:103252800-103267400	Weak transcription	Fetal Kidney	kidney
38	chr8:103252800-103268000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:103252800-103273600	Weak transcription	Fetal Intestine Small	intestine
40	chr8:103253000-103265600	Weak transcription	NH-A	brain
41	chr8:103253000-103266200	Weak transcription	Brain Anterior Caudate	brain
42	chr8:103253000-103268800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:103253200-103265400	Weak transcription	Hela-S3	cervix
44	chr8:103253200-103266000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr8:103253200-103271800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr8:103253400-103265800	Weak transcription	NHEK	skin
47	chr8:103253400-103268200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr8:103253600-103265800	Weak transcription	HepG2	liver
49	chr8:103255200-103279800	Strong transcription	Primary B cells from cord blood	blood
50	chr8:103256000-103269000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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