Variant report

Variant	rs10130310
Chromosome Location	chr14:31676197-31676198
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	MAX	chr14:31675757-31678710	HepG2	liver:	n/a	chr14:31677129-31677139
2	POLR2A	chr14:31675837-31677971	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:31676038-31677698	K562	blood:	n/a	n/a
4	POLR2A	chr14:31675829-31677962	GM12891	blood:	n/a	n/a
5	TAF1	chr14:31675943-31677690	HepG2	liver:	n/a	n/a
6	CHD1	chr14:31675282-31678175	GM12878	blood:	n/a	n/a
7	POLR2A	chr14:31674875-31678653	HepG2	liver:	n/a	n/a
8	TBP	chr14:31675279-31676333	GM12878	blood:	n/a	n/a
9	PAX5	chr14:31675933-31676269	GM12892	blood:	n/a	n/a
10	POLR2A	chr14:31676011-31678048	Hela-S3	cervix:	n/a	n/a
11	MYBL2	chr14:31675718-31678099	HepG2	liver:	n/a	n/a
12	CTCF	chr14:31676060-31676210	HMEC	breast:	n/a	n/a
13	FOXA1	chr14:31675918-31677856	HepG2	liver:	n/a	n/a
14	MAX	chr14:31675933-31676206	Hela-S3	cervix:	n/a	n/a
15	RUNX3	chr14:31675784-31676438	GM12878	blood:	n/a	n/a
16	POLR2A	chr14:31675881-31677739	GM12892	blood:	n/a	n/a
17	SIN3AK20	chr14:31675907-31676349	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr14:31676057-31677651	ECC-1	luminal epithelium:	n/a	n/a
19	HDAC2	chr14:31675775-31678302	HepG2	liver:	n/a	chr14:31678138-31678152 chr14:31678136-31678150 chr14:31678141-31678155 chr14:31678140-31678154 chr14:31678137-31678151 chr14:31678133-31678147
20	POLR2A	chr14:31675912-31677739	Hela-S3	cervix:	n/a	n/a
21	UBTF	chr14:31675939-31677701	K562	blood:	n/a	n/a
22	SIN3A	chr14:31675021-31677749	H1-hESC	embryonic stem cell:	n/a	chr14:31676083-31676094 chr14:31676154-31676163 chr14:31677552-31677565 chr14:31676314-31676323 chr14:31676167-31676180 chr14:31676317-31676330
23	POLR2A	chr14:31676070-31676261	HUVEC	blood vessel:	n/a	n/a
24	ZEB1	chr14:31675831-31676266	GM12878	blood:	n/a	n/a
25	HEY1	chr14:31675889-31678147	HepG2	liver:	n/a	n/a
26	CREB1	chr14:31675803-31678178	HepG2	liver:	n/a	n/a
27	YY1	chr14:31675930-31676275	GM12878	blood:	n/a	chr14:31676082-31676091 chr14:31676079-31676093
28	POLR2A	chr14:31675993-31677775	MCF-7	breast:	n/a	n/a
29	POLR2A	chr14:31675911-31677750	GM18526	blood:	n/a	n/a
30	POLR2A	chr14:31675880-31677757	GM12878	blood:	n/a	n/a
31	POLR2A	chr14:31675845-31677867	GM12892	blood:	n/a	n/a
32	YY1	chr14:31676176-31677639	GM12878	blood:	n/a	chr14:31676284-31676298 chr14:31677125-31677136 chr14:31676991-31677000 chr14:31677032-31677052 chr14:31677125-31677134 chr14:31676929-31676940 chr14:31677128-31677137
33	RAD21	chr14:31676035-31677867	IMR90	lung:	n/a	chr14:31676970-31676983
34	POLR2A	chr14:31676015-31677821	HL-60	blood:	n/a	n/a
35	POLR2A	chr14:31675879-31677817	GM15510	blood:	n/a	n/a
36	TCF12	chr14:31675751-31677844	A549	lung:	n/a	chr14:31675874-31675884
37	ZNF143	chr14:31676170-31676268	GM12878	blood:	n/a	n/a
38	HNF4G	chr14:31675959-31677735	HepG2	liver:	n/a	chr14:31676122-31676138 chr14:31676126-31676133 chr14:31677591-31677606
39	SMARCB1	chr14:31675950-31678059	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr14:31675876-31676323	GM12891	blood:	n/a	n/a
41	POLR2A	chr14:31675848-31677720	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr14:31675871-31677891	GM19099	blood:	n/a	n/a
43	POLR2A	chr14:31674335-31678653	HepG2	liver:	n/a	n/a
44	POLR2A	chr14:31675832-31676330	GM12892	blood:	n/a	n/a
45	MXI1	chr14:31675846-31678213	IMR90	lung:	n/a	chr14:31677795-31677810
46	TAF1	chr14:31675831-31677709	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr14:31675920-31678095	Hela-S3	cervix:	n/a	n/a
48	MAZ	chr14:31675948-31677938	GM12878	blood:	n/a	chr14:31677129-31677139
49	NFIC	chr14:31676008-31678056	HepG2	liver:	n/a	n/a
50	TAF1	chr14:31675908-31677738	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:31675418..31678639-chr14:31811864..31816181,5	MCF-7	breast:
2	chr14:31595755..31597635-chr14:31675471..31677370,2	MCF-7	breast:
3	chr14:31675912..31678861-chr14:31887661..31889789,2	K562	blood:
4	chr14:31674459..31678432-chr14:31805100..31811566,8	MCF-7	breast:
5	chr14:31675912..31678861-chr14:31887650..31889789,3	K562	blood:
6	chr14:31588557..31591164-chr14:31676122..31677690,2	MCF-7	breast:
7	chr14:31493616..31495498-chr14:31675892..31677511,2	K562	blood:
8	chr14:31676195..31678341-chr2:204101427..204103984,2	MCF-7	breast:

Variant related genes	Relation type
HECTD1	TF binding region
ENSG00000129493	Chromatin interaction
ENSG00000092148	Chromatin interaction
ENSG00000119004	Chromatin interaction
ENSG00000100478	Chromatin interaction
ENSG00000250365	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10136398	0.92[EUR][1000 genomes]
rs10147747	0.84[ASW][hapmap];0.80[YRI][hapmap]
rs10149122	0.85[GIH][hapmap]
rs12436156	0.92[EUR][1000 genomes]
rs12879653	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12888536	0.85[EUR][1000 genomes]
rs12892791	0.80[CEU][hapmap]
rs12898167	0.81[CEU][hapmap]
rs28417029	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs33983486	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34588788	0.94[CEU][hapmap];0.81[TSI][hapmap]
rs7157080	0.85[GIH][hapmap]

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	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	26 gene(s)	inside rSNPs	diseases
4	nsv1043033	chr14:31538984-31686696	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
5	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10130310	HECTD1	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31673600-31677600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:31673600-31678000	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr14:31673800-31677200	Active TSS	HMEC	breast
4	chr14:31673800-31677400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:31674000-31677400	Active TSS	NHLF	lung
6	chr14:31674000-31677800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:31674200-31677400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:31674200-31677400	Active TSS	GM12878-XiMat	blood
9	chr14:31674200-31677600	Active TSS	A549	lung
10	chr14:31674200-31677600	Active TSS	NHEK	skin
11	chr14:31674200-31677800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr14:31674200-31678200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr14:31674200-31678200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr14:31674400-31677000	Active TSS	Right Atrium	heart
15	chr14:31674400-31677200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:31674400-31677400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:31674400-31677600	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr14:31674400-31677600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:31674400-31677600	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr14:31674400-31677600	Active TSS	Stomach Smooth Muscle	stomach
21	chr14:31674400-31677600	Active TSS	NHDF-Ad	bronchial
22	chr14:31674400-31677800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:31674400-31678000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr14:31674400-31678000	Active TSS	Psoas Muscle	Psoas
25	chr14:31674600-31677200	Active TSS	Muscle Satellite Cultured Cells	--
26	chr14:31674600-31677600	Active TSS	Fetal Intestine Large	intestine
27	chr14:31674600-31677800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:31674800-31676800	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr14:31674800-31677200	Active TSS	Placenta	Placenta
30	chr14:31674800-31677600	Active TSS	Colonic Mucosa	Colon
31	chr14:31674800-31677600	Active TSS	Fetal Muscle Leg	muscle
32	chr14:31674800-31677800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:31674800-31677800	Active TSS	Aorta	Aorta
34	chr14:31674800-31677800	Active TSS	Ovary	ovary
35	chr14:31674800-31678000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:31674800-31678200	Active TSS	HSMMtube	muscle
37	chr14:31675000-31676800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr14:31675000-31677400	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr14:31675000-31677400	Active TSS	Pancreas	Pancrea
40	chr14:31675000-31677800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:31675000-31677800	Active TSS	Fetal Muscle Trunk	muscle
42	chr14:31675000-31677800	Active TSS	Lung	lung
43	chr14:31675000-31678000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:31675000-31678200	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr14:31675200-31677200	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr14:31675200-31677200	Active TSS	HUVEC	blood vessel
47	chr14:31675200-31677400	Active TSS	H1 Cell Line	embryonic stem cell
48	chr14:31675200-31677400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:31675200-31677400	Active TSS	Fetal Thymus	thymus
50	chr14:31675200-31677400	Active TSS	Rectal Mucosa Donor 31	rectum

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