Variant report

Variant	rs6571355
Chromosome Location	chr14:31079998-31079999
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:31079987-31080214	MCF10A-Er-Src	breast:	n/a	n/a
2	GATA3	chr14:31079820-31080441	MCF-7	breast:	n/a	n/a
3	FOXA1	chr14:31079869-31080259	T-47D	breast:	n/a	chr14:31079954-31079969
4	CTCF	chr14:31079960-31080110	HUVEC	blood vessel:	n/a	n/a
5	FOXA2	chr14:31079766-31080338	A549	lung:	n/a	n/a
6	FOS	chr14:31079885-31080572	MCF10A-Er-Src	breast:	n/a	n/a
7	NFIC	chr14:31079704-31080780	ECC-1	luminal epithelium:	n/a	n/a
8	RAD21	chr14:31079932-31080757	SK-N-SH	brain:	n/a	n/a
9	FOS	chr14:31079950-31080581	MCF10A-Er-Src	breast:	n/a	n/a
10	NFIC	chr14:31079821-31080607	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr14:31079797-31080641	HepG2	liver:	n/a	n/a
12	STAT3	chr14:31079947-31080553	MCF10A-Er-Src	breast:	n/a	n/a
13	TEAD4	chr14:31079956-31080303	ECC-1	luminal epithelium:	n/a	n/a
14	MYC	chr14:31079899-31080523	MCF10A-Er-Src	breast:	n/a	n/a
15	TCF12	chr14:31079733-31080360	A549	lung:	n/a	n/a
16	CTCF	chr14:31079960-31080110	HPAF	blood vessel:	n/a	n/a
17	RAD21	chr14:31079949-31080655	MCF-7	breast:	n/a	n/a
18	NFIC	chr14:31079840-31080702	SK-N-SH	brain:	n/a	n/a
19	FOXA1	chr14:31079875-31080141	ECC-1	luminal epithelium:	n/a	chr14:31079954-31079969
20	GATA3	chr14:31079868-31080276	T-47D	breast:	n/a	n/a
21	CTCF	chr14:31079860-31080130	HPF	lung:	n/a	n/a
22	NFIC	chr14:31079806-31080757	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr14:31079816-31080584	MCF-7	breast:	n/a	n/a
24	SP1	chr14:31079807-31080235	A549	lung:	n/a	n/a
25	FOXA2	chr14:31079837-31080216	A549	lung:	n/a	n/a
26	TEAD4	chr14:31079833-31080353	ECC-1	luminal epithelium:	n/a	n/a
27	SIN3AK20	chr14:31079833-31080605	MCF-7	breast:	n/a	n/a
28	FOS	chr14:31079886-31080553	MCF10A-Er-Src	breast:	n/a	n/a
29	FOXA1	chr14:31079898-31080281	ECC-1	luminal epithelium:	n/a	chr14:31079954-31079969
30	POLR2A	chr14:31079921-31080679	K562	blood:	n/a	n/a
31	SP1	chr14:31079781-31080297	A549	lung:	n/a	n/a
32	GATA3	chr14:31079676-31080617	MCF-7	breast:	n/a	n/a
33	MYC	chr14:31079849-31080520	MCF10A-Er-Src	breast:	n/a	n/a
34	JUN	chr14:31079870-31080731	K562	blood:	n/a	n/a
35	FOXA1	chr14:31079866-31080147	T-47D	breast:	n/a	chr14:31079954-31079969

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:31078979..31080673-chr14:31091206..31092941,2	MCF-7	breast:
2	chr14:31070404..31072787-chr14:31077582..31080526,2	K562	blood:
3	chr14:31074562..31083390-chr14:31084587..31093565,15	K562	blood:

No data

Variant related genes	Relation type
G2E3	TF binding region
ENSG00000092108	Chromatin interaction
ENSG00000092140	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10129681	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130571	0.81[AMR][1000 genomes]
rs10132255	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs10132507	0.81[AMR][1000 genomes]
rs10135625	1.00[AMR][1000 genomes]
rs10135741	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140530	0.90[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10141104	1.00[AMR][1000 genomes]
rs10141346	1.00[AMR][1000 genomes]
rs10141827	1.00[AMR][1000 genomes]
rs10142125	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs10142747	0.81[AMR][1000 genomes]
rs10143105	0.81[AMR][1000 genomes]
rs10143565	0.90[AMR][1000 genomes]
rs10148278	0.81[AMR][1000 genomes]
rs10148782	0.81[AMR][1000 genomes]
rs10151934	1.00[AMR][1000 genomes]
rs10152019	1.00[AMR][1000 genomes]
rs10152074	1.00[AMR][1000 genomes]
rs10220596	1.00[AMR][1000 genomes]
rs2157700	0.81[AMR][1000 genomes]
rs28440085	1.00[AMR][1000 genomes]
rs28495989	1.00[AMR][1000 genomes]
rs28542156	1.00[AMR][1000 genomes]
rs28649144	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28649328	1.00[AMR][1000 genomes]
rs28721907	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28798220	1.00[AMR][1000 genomes]
rs28860821	1.00[AMR][1000 genomes]
rs2889991	1.00[AMR][1000 genomes]
rs56250330	1.00[AMR][1000 genomes]
rs60108812	1.00[AMR][1000 genomes]
rs7140200	0.89[AMR][1000 genomes]
rs7144286	1.00[AMR][1000 genomes]
rs7149384	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7150097	1.00[AMR][1000 genomes]
rs7154354	1.00[AMR][1000 genomes]
rs7156057	0.81[AMR][1000 genomes]
rs7156916	0.95[YRI][hapmap];0.90[AMR][1000 genomes]
rs7157203	1.00[AMR][1000 genomes]
rs7159972	0.81[AMR][1000 genomes]
rs7359107	0.81[AMR][1000 genomes]
rs74041103	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74041112	1.00[AMR][1000 genomes]
rs74041117	1.00[AMR][1000 genomes]
rs74041128	1.00[AMR][1000 genomes]
rs74041241	0.81[AMR][1000 genomes]
rs8006594	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010048	0.85[YRI][hapmap];0.81[AMR][1000 genomes]
rs8012029	1.00[AMR][1000 genomes]
rs8014497	0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8019014	0.90[AMR][1000 genomes]
rs8022976	0.81[AMR][1000 genomes]
rs9806012	1.00[AMR][1000 genomes]
rs9944142	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv564171	chr14:31068090-31149630	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats 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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31043000-31090600	Weak transcription	Small Intestine	intestine
2	chr14:31053800-31090600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:31054200-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:31054800-31087200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:31055000-31086800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:31055600-31088000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:31058400-31080000	Weak transcription	Fetal Heart	heart
8	chr14:31059800-31080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:31061600-31090400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr14:31064400-31087800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:31064800-31086600	Strong transcription	Dnd41	blood
12	chr14:31064800-31087800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:31065600-31086600	Strong transcription	HepG2	liver
14	chr14:31065800-31083000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:31065800-31086800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:31065800-31087000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:31065800-31087600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:31066000-31082400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr14:31068000-31080600	Weak transcription	Right Ventricle	heart
20	chr14:31068200-31080000	Weak transcription	Esophagus	oesophagus
21	chr14:31069000-31090600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr14:31069000-31090800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:31069600-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:31070400-31090600	Weak transcription	Spleen	Spleen
25	chr14:31071000-31090600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:31071000-31090600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr14:31071400-31090200	Weak transcription	Fetal Brain Female	brain
28	chr14:31071400-31090400	Weak transcription	Colonic Mucosa	Colon
29	chr14:31071400-31090800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr14:31072000-31080000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr14:31072200-31080000	Weak transcription	K562	blood
32	chr14:31072200-31080200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:31072200-31083600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr14:31072200-31090400	Weak transcription	Aorta	Aorta
35	chr14:31072200-31090400	Weak transcription	Colon Smooth Muscle	Colon
36	chr14:31072400-31080000	Weak transcription	Brain Anterior Caudate	brain
37	chr14:31072400-31090600	Weak transcription	Lung	lung
38	chr14:31072600-31083600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:31073800-31083400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:31073800-31090200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr14:31073800-31090200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr14:31073800-31090600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:31074400-31083400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr14:31074400-31083400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr14:31074400-31090200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr14:31074400-31090400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr14:31074400-31090400	Weak transcription	Fetal Intestine Small	intestine
48	chr14:31074400-31090400	Weak transcription	Fetal Stomach	stomach
49	chr14:31074400-31090600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr14:31074600-31090200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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