Variant report

Variant	rs10144394
Chromosome Location	chr14:68935759-68935760
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:0)
Chromatin interactive
region (count:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr14:68935313-68935869	MCF-7	breast:	n/a	n/a
2	RUNX3	chr14:68935343-68935982	GM12878	blood:	n/a	n/a
3	GATA3	chr14:68935131-68936692	MCF-7	breast:	n/a	chr14:68935449-68935459 chr14:68936432-68936453
4	TCF7L2	chr14:68935430-68935850	MCF-7	breast:	n/a	n/a
5	NR2F2	chr14:68935265-68936690	MCF-7	breast:	n/a	n/a
6	POLR2A	chr14:68935405-68935866	U87	brain:	n/a	n/a
7	ZNF217	chr14:68935390-68935867	MCF-7	breast:	n/a	n/a
8	GATA3	chr14:68935372-68936735	A549	lung:	n/a	chr14:68935449-68935459 chr14:68936432-68936453
9	NFIC	chr14:68935412-68935901	GM12878	blood:	n/a	n/a
10	GATA3	chr14:68935470-68935762	MCF-7	breast:	n/a	n/a
11	TFAP2A	chr14:68935254-68935867	Hela-S3	cervix:	n/a	chr14:68935381-68935393 chr14:68935381-68935393 chr14:68935381-68935393 chr14:68935562-68935577
12	POLR2A	chr14:68935405-68935939	U87	brain:	n/a	n/a
13	TCF12	chr14:68935157-68935893	MCF-7	breast:	n/a	n/a
14	STAT3	chr14:68935396-68935882	MCF10A-Er-Src	breast:	n/a	chr14:68935663-68935674 chr14:68935444-68935455
15	GATA3	chr14:68935302-68936480	T-47D	breast:	n/a	chr14:68935449-68935459 chr14:68936432-68936453
16	STAT3	chr14:68935391-68935873	MCF10A-Er-Src	breast:	n/a	chr14:68935663-68935674 chr14:68935444-68935455
17	EP300	chr14:68935228-68935828	T-47D	breast:	n/a	n/a
18	REST	chr14:68935720-68935927	H1-hESC	embryonic stem cell:	n/a	n/a
19	NR3C1	chr14:68935455-68935766	A549	lung:	n/a	n/a
20	TCF7L2	chr14:68935671-68936421	PANC-1	pancreas:	n/a	n/a
21	TCF12	chr14:68935236-68936730	A549	lung:	n/a	n/a
22	JUND	chr14:68935450-68935769	K562	blood:	n/a	chr14:68935603-68935614
23	STAT3	chr14:68935396-68935857	MCF10A-Er-Src	breast:	n/a	chr14:68935663-68935674 chr14:68935444-68935455
24	STAT3	chr14:68935496-68935870	MCF10A-Er-Src	breast:	n/a	chr14:68935663-68935674
25	TCF7L2	chr14:68935363-68935804	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr14:68935720-68935870	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr14:68935640-68935790	HMEC	breast:	n/a	n/a
28	REST	chr14:68935693-68936549	A549	lung:	n/a	n/a
29	FOSL2	chr14:68935352-68935904	A549	lung:	n/a	n/a
30	HDAC2	chr14:68935327-68935892	MCF-7	breast:	n/a	n/a
31	RUNX3	chr14:68935441-68935778	GM12878	blood:	n/a	n/a
32	REST	chr14:68935759-68936005	Hela-S3	cervix:	n/a	n/a
33	GATA3	chr14:68935067-68936798	MCF-7	breast:	n/a	chr14:68935449-68935459 chr14:68936432-68936453
34	CTCF	chr14:68935680-68935830	MCF-7	breast:	n/a	n/a
35	SIN3AK20	chr14:68935068-68936759	MCF-7	breast:	n/a	n/a
36	GATA2	chr14:68935032-68935851	HUVEC	blood vessel:	n/a	chr14:68935449-68935459
37	GATA3	chr14:68935350-68935870	T-47D	breast:	n/a	chr14:68935449-68935459
38	FOSL2	chr14:68935295-68935942	MCF-7	breast:	n/a	n/a
39	FOS	chr14:68935418-68935782	MCF10A-Er-Src	breast:	n/a	chr14:68935603-68935614
40	CTCF	chr14:68935620-68935770	HAc	cerebellar:	n/a	n/a
41	TFAP2C	chr14:68935265-68935916	Hela-S3	cervix:	n/a	chr14:68935564-68935579
42	POLR2A	chr14:68935400-68935791	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr14:68935371-68935788	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr14:68935401-68935870	MCF10A-Er-Src	breast:	n/a	chr14:68935603-68935614
45	FOS	chr14:68935226-68935766	HUVEC	blood vessel:	n/a	chr14:68935603-68935614
46	EP300	chr14:68935342-68935968	MCF-7	breast:	n/a	n/a
47	GATA3	chr14:68935262-68935800	MCF-7	breast:	n/a	chr14:68935449-68935459
48	REST	chr14:68935682-68935998	SK-N-SH	brain:	n/a	n/a
49	GABPA	chr14:68935088-68935838	MCF-7	breast:	n/a	n/a
50	FOSL2	chr14:68935263-68935933	MCF-7	breast:	n/a	n/a

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68933809..68936461-chr14:69124608..69126436,2	MCF-7	breast:
2	chr14:68933801..68936110-chr14:68987785..68990032,2	MCF-7	breast:
3	chr14:68933689..68937829-chr14:68938571..68943232,4	K562	blood:
4	chr14:68868129..68871052-chr14:68933938..68936786,3	MCF-7	breast:
5	chr14:68925652..68926413-chr14:68935149..68936151,3	MCF-7	breast:
6	chr14:68934923..68936704-chr14:68952698..68955453,2	MCF-7	breast:
7	chr14:68932415..68937640-chr14:69040451..69046051,7	MCF-7	breast:
8	chr14:68744804..68746864-chr14:68934365..68937037,2	MCF-7	breast:
9	chr14:68935153..68936558-chr14:69036466..69037324,5	MCF-7	breast:
10	chr14:68925452..68926413-chr14:68935104..68936023,4	MCF-7	breast:
11	chr14:68713315..68714834-chr14:68935633..68937322,2	MCF-7	breast:
12	chr14:68884961..68886494-chr14:68933709..68935958,2	MCF-7	breast:
13	chr14:68877361..68878949-chr14:68933343..68936229,2	MCF-7	breast:
14	chr14:68862930..68865913-chr14:68933149..68936719,4	MCF-7	breast:
15	chr14:68932713..68936271-chr14:68973321..68975311,3	MCF-7	breast:
16	chr14:68934022..68936494-chr14:69279866..69281612,2	K562	blood:
17	chr14:68748170..68751386-chr14:68933626..68937180,4	MCF-7	breast:
18	chr14:68855816..68857966-chr14:68934020..68936825,3	MCF-7	breast:
19	chr14:68935034..68935823-chr14:69036590..69037270,2	MCF-7	breast:
20	chr14:68935153..68936558-chr14:69036476..69037324,3	MCF-7	breast:
21	chr14:68933425..68935782-chr14:68963190..68965749,2	MCF-7	breast:
22	chr14:68933643..68938139-chr14:68984805..68987652,4	MCF-7	breast:
23	chr14:68930492..68947840-chr14:69251918..69264148,62	MCF-7	breast:
24	chr14:68934261..68937173-chr14:68974215..68976515,2	MCF-7	breast:
25	chr14:68935548..68937317-chr14:68938683..68940691,2	MCF-7	breast:
26	chr14:68924822..68938526-chr14:69257377..69265713,29	MCF-7	breast:
27	chr14:68935023..68937975-chr14:68980944..68983030,2	MCF-7	breast:
28	chr14:68934627..68937001-chr14:69034855..69037345,2	MCF-7	breast:
29	chr14:68934148..68937192-chr14:68979856..68982063,3	MCF-7	breast:
30	chr14:68933594..68935776-chr14:68976787..68979201,2	MCF-7	breast:
31	chr14:68935583..68937127-chr14:69124906..69126838,2	MCF-7	breast:
32	chr14:68864311..68866713-chr14:68933323..68935955,2	MCF-7	breast:
33	chr14:68934455..68938409-chr14:69031168..69034448,4	MCF-7	breast:
34	chr14:68603270..68607294-chr14:68934008..68937330,4	MCF-7	breast:
35	chr14:68934889..68936879-chr14:68948786..68950483,2	MCF-7	breast:
36	chr14:68891874..68894078-chr14:68933895..68936431,2	MCF-7	breast:
37	chr14:68721992..68725773-chr14:68931800..68936275,3	MCF-7	breast:
38	chr14:68931687..68934408-chr14:68934726..68938256,5	MCF-7	breast:

No data

Variant related genes	Relation type
RAD51B	TF binding region
ENSG00000185650	Chromatin interaction
ENSG00000182185	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10130623	0.92[ASN][1000 genomes]
rs10131303	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10133531	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[ASN][1000 genomes]
rs10135443	0.88[ASN][1000 genomes]
rs10142381	0.98[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10145082	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[ASN][1000 genomes]
rs10145446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10149278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11622203	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11625077	0.88[ASN][1000 genomes]
rs11626013	0.88[ASN][1000 genomes]
rs11626015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846851	0.88[ASN][1000 genomes]
rs11850581	1.00[CEU][hapmap]
rs12323677	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1570107	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17105573	1.00[CEU][hapmap]
rs17105601	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17105664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28376370	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28655994	0.88[ASN][1000 genomes]
rs3784127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60145217	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7142184	0.88[ASN][1000 genomes]
rs73276276	0.85[ASN][1000 genomes]
rs7359118	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68922200-68937600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:68924800-68936000	Enhancers	HSMM	muscle
3	chr14:68926200-68940000	Weak transcription	Ovary	ovary
4	chr14:68926800-68937600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr14:68927000-68936600	Weak transcription	Primary B cells from cord blood	blood
6	chr14:68927600-68943800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr14:68928400-68939400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr14:68928600-68949000	Weak transcription	Thymus	Thymus
9	chr14:68929000-68937200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:68929400-68938000	Enhancers	HMEC	breast
11	chr14:68930600-68936200	Enhancers	HUVEC	blood vessel
12	chr14:68931200-68936200	Enhancers	NH-A	brain
13	chr14:68931600-68936200	Enhancers	Placenta	Placenta
14	chr14:68932200-68950000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:68932800-68938000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr14:68933000-68936400	Enhancers	Stomach Mucosa	stomach
17	chr14:68933000-68946600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr14:68933200-68936200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:68933200-68936400	Enhancers	Pancreas	Pancrea
20	chr14:68933400-68936600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:68933400-68943000	Weak transcription	Right Atrium	heart
22	chr14:68933400-68943400	Weak transcription	Left Ventricle	heart
23	chr14:68933600-68936600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:68933600-68937200	Enhancers	NHEK	skin
25	chr14:68933600-68937400	Enhancers	A549	lung
26	chr14:68933600-68937600	Weak transcription	Psoas Muscle	Psoas
27	chr14:68933600-68938000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr14:68933600-68938000	Weak transcription	Adipose Nuclei	Adipose
29	chr14:68933600-68939800	Weak transcription	Fetal Stomach	stomach
30	chr14:68933600-68942800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:68933600-68950600	Weak transcription	Aorta	Aorta
32	chr14:68933800-68936800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr14:68933800-68937000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr14:68933800-68942600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr14:68934000-68935800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:68934200-68936000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:68934200-68936000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr14:68934200-68946200	Enhancers	Primary B cells from peripheral blood	blood
39	chr14:68934400-68939800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr14:68934800-68935800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr14:68934800-68935800	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr14:68934800-68935800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr14:68934800-68936000	Enhancers	Primary T cells from cord blood	blood
44	chr14:68934800-68936000	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr14:68934800-68936200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr14:68934800-68937800	Enhancers	Fetal Intestine Small	intestine
47	chr14:68934800-68938000	Enhancers	Fetal Intestine Large	intestine
48	chr14:68934800-68940200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr14:68935000-68935800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:68935000-68935800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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