Variant report

Variant	rs3181127
Chromosome Location	chr10:97603442-97603443
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	POLR2A	chr10:97602729-97603898	GM12891	blood:	n/a	n/a
2	POLR2A	chr10:97603355-97603990	GM12878	blood:	n/a	n/a
3	POLR2A	chr10:97603284-97603783	GM12891	blood:	n/a	n/a
4	POLR2A	chr10:97603209-97603717	GM12891	blood:	n/a	n/a
5	POLR2A	chr10:97603228-97603682	GM12891	blood:	n/a	n/a
6	POLR2A	chr10:97602916-97603483	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:97603215-97604124	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97598780..97600551-chr10:97601857..97603469,2	K562	blood:

Variant related genes	Relation type
ENTPD1	TF binding region
ENSG00000138185	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11541780	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11542152	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3176887	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3176892	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3176893	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3181116	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3181118	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3181125	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35168849	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41291572	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62625035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7073436	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7097236	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7101227	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7900437	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7915682	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7919673	0.92[AMR][1000 genomes];0.90[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	nsv531923	chr10:97366055-97725757	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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 target site	15 gene(s)	inside rSNPs	diseases
2	nsv895905	chr10:97513362-97686064	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv895906	chr10:97513362-97703650	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	10 gene(s)	inside rSNPs	diseases
4	nsv895907	chr10:97529318-97686064	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv895908	chr10:97544513-97724247	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3181127	TCTN3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97578600-97604400	Weak transcription	Aorta	Aorta
2	chr10:97592000-97607200	Weak transcription	Left Ventricle	heart
3	chr10:97592600-97632800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:97597200-97627200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr10:97597400-97604600	Weak transcription	Lung	lung
6	chr10:97597400-97624600	Weak transcription	Placenta	Placenta
7	chr10:97597400-97627400	Weak transcription	Brain Angular Gyrus	brain
8	chr10:97597600-97609600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr10:97597600-97620600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr10:97600600-97628600	Weak transcription	Colonic Mucosa	Colon
11	chr10:97601200-97624600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr10:97601600-97624400	Weak transcription	Fetal Intestine Large	intestine
13	chr10:97601600-97635600	Weak transcription	Fetal Brain Male	brain
14	chr10:97601800-97604200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr10:97601800-97605200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr10:97601800-97607200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr10:97601800-97607400	Weak transcription	Brain Anterior Caudate	brain
18	chr10:97601800-97608800	Weak transcription	Colon Smooth Muscle	Colon
19	chr10:97601800-97609200	Strong transcription	GM12878-XiMat	blood
20	chr10:97601800-97624600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr10:97601800-97626000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr10:97601800-97626400	Weak transcription	Brain Hippocampus Middle	brain
23	chr10:97601800-97627200	Weak transcription	Liver	Liver
24	chr10:97601800-97635400	Weak transcription	Brain Substantia Nigra	brain
25	chr10:97601800-97647800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr10:97602200-97605200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:97602200-97611000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr10:97602400-97603600	Weak transcription	Fetal Muscle Leg	muscle
29	chr10:97602400-97605200	Weak transcription	Fetal Kidney	kidney
30	chr10:97602400-97606000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr10:97602400-97607800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr10:97602400-97610800	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr10:97602400-97611000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr10:97602400-97655400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr10:97602600-97605600	Strong transcription	Stomach Smooth Muscle	stomach
36	chr10:97602600-97610800	Strong transcription	Primary B cells from cord blood	blood
37	chr10:97602800-97603800	Strong transcription	Spleen	Spleen
38	chr10:97603000-97624800	Weak transcription	Fetal Intestine Small	intestine
39	chr10:97603200-97604600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr10:97603200-97624800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr10:97603400-97604200	Weak transcription	Fetal Stomach	stomach
42	chr10:97603400-97604200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr10:97603400-97605800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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