Variant report

Variant	rs7915682
Chromosome Location	chr10:97591124-97591125
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	POLR2A	chr10:97590546-97591677	GM12891	blood:	n/a	n/a
2	POLR2A	chr10:97590552-97592965	GM12892	blood:	n/a	n/a
3	POLR2A	chr10:97590929-97591536	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:97590706-97593107	GM19099	blood:	n/a	n/a
5	POLR2A	chr10:97590863-97591599	GM12878	blood:	n/a	n/a
6	ATF2	chr10:97590738-97592881	GM12878	blood:	n/a	n/a
7	MTA3	chr10:97590846-97592816	GM12878	blood:	n/a	n/a
8	BATF	chr10:97590873-97591179	GM12878	blood:	n/a	n/a
9	POLR2A	chr10:97590584-97592933	GM12891	blood:	n/a	n/a
10	RELA	chr10:97591102-97592679	GM19193	blood:	n/a	n/a
11	POLR2A	chr10:97590580-97592969	GM12892	blood:	n/a	n/a
12	POLR2A	chr10:97590522-97593056	GM12891	blood:	n/a	n/a
13	POLR2A	chr10:97590884-97592898	GM12892	blood:	n/a	n/a
14	SPI1	chr10:97590787-97591179	GM12891	blood:	n/a	chr10:97591016-97591023
15	POLR2A	chr10:97590660-97591620	GM12891	blood:	n/a	n/a
16	POLR2A	chr10:97590945-97592780	GM15510	blood:	n/a	n/a
17	MTA3	chr10:97590533-97592996	GM12878	blood:	n/a	n/a
18	SMC3	chr10:97590990-97592573	GM12878	blood:	n/a	n/a
19	NFATC1	chr10:97590592-97592667	GM12878	blood:	n/a	n/a
20	POLR2A	chr10:97590636-97594633	GM12878	blood:	n/a	n/a
21	NRF1	chr10:97591069-97591269	GM12878	blood:	n/a	n/a
22	STAT5A	chr10:97590628-97592705	GM12878	blood:	n/a	chr10:97591452-97591460 chr10:97590854-97590862
23	POLR2A	chr10:97590647-97594863	GM18505	blood:	n/a	n/a
24	CUX1	chr10:97590908-97592729	GM12878	blood:	n/a	n/a
25	POLR2A	chr10:97590488-97593063	GM12878	blood:	n/a	n/a
26	PML	chr10:97591092-97593007	GM12878	blood:	n/a	chr10:97591875-97591883
27	RUNX3	chr10:97590774-97591552	GM12878	blood:	n/a	n/a
28	POLR2A	chr10:97590495-97592894	GM12892	blood:	n/a	n/a
29	SPI1	chr10:97590652-97591408	GM12878	blood:	n/a	chr10:97591016-97591023
30	POLR2A	chr10:97590572-97594643	GM12891	blood:	n/a	n/a
31	POLR2A	chr10:97590446-97593025	GM12878	blood:	n/a	n/a
32	POLR2A	chr10:97590646-97594744	GM12878	blood:	n/a	n/a
33	NFATC1	chr10:97590602-97592781	GM12878	blood:	n/a	n/a
34	SPI1	chr10:97590806-97591211	GM12891	blood:	n/a	chr10:97591016-97591023

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97582543..97584692-chr10:97589713..97591787,2	K562	blood:

Variant related genes	Relation type
ENSG00000240527	TF binding region
ENSG00000138185	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10882633	0.80[EUR][1000 genomes]
rs10882634	0.83[EUR][1000 genomes]
rs10882635	0.80[EUR][1000 genomes]
rs11541780	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11542152	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12218873	0.83[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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3181118	1.00[CEU][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]
rs3181127	1.00[CEU][hapmap];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];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73325195	0.83[EUR][1000 genomes]
rs7900437	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7903143	0.80[EUR][1000 genomes]
rs7914690	1.00[YRI][hapmap]
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
rs7915682	TCTN3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97575600-97596600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr10:97575800-97592000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:97575800-97597000	Weak transcription	Brain Hippocampus Middle	brain
4	chr10:97577200-97591400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr10:97578600-97604400	Weak transcription	Aorta	Aorta
6	chr10:97581000-97600600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr10:97581200-97596400	Weak transcription	Small Intestine	intestine
8	chr10:97581200-97602000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr10:97582800-97594200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr10:97583400-97594600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr10:97584600-97596800	Weak transcription	Brain Angular Gyrus	brain
12	chr10:97586200-97600000	Weak transcription	Fetal Intestine Small	intestine
13	chr10:97589000-97591800	Weak transcription	Fetal Stomach	stomach
14	chr10:97590000-97591800	Enhancers	Primary B cells from peripheral blood	blood
15	chr10:97590200-97594600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr10:97590200-97598800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr10:97590600-97591400	Genic enhancers	Primary monocytes fromperipheralblood	blood
18	chr10:97590600-97592000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
19	chr10:97590600-97594400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr10:97590600-97594800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr10:97590800-97593800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr10:97590800-97594200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr10:97591000-97591200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr10:97591000-97591200	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr10:97591000-97591200	Genic enhancers	Spleen	Spleen
26	chr10:97591000-97592000	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr10:97591000-97592000	Enhancers	Left Ventricle	heart
28	chr10:97591000-97592000	Enhancers	Sigmoid Colon	Sigmoid Colon

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