Variant report

Variant	rs534373039
Chromosome Location	chr5:68625857-68625858
allele	A/C
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	KAP1	chr5:68625729-68626152	HEK293	kidney:	n/a	n/a
2	FOSL2	chr5:68625690-68626198	MCF-7	breast:	n/a	chr5:68625986-68625994
3	FOXA1	chr5:68625780-68626223	T-47D	breast:	n/a	n/a
4	ESR1	chr5:68625628-68626208	T-47D	breast:	n/a	chr5:68625930-68625945
5	NR2F2	chr5:68625597-68626254	MCF-7	breast:	n/a	n/a
6	SIN3AK20	chr5:68625482-68626477	MCF-7	breast:	n/a	n/a
7	JUND	chr5:68625621-68626256	MCF-7	breast:	n/a	chr5:68625986-68625994
8	MAX	chr5:68625719-68626224	MCF-7	breast:	n/a	n/a
9	ESR1	chr5:68625773-68626189	T-47D	breast:	n/a	chr5:68625930-68625945
10	KAP1	chr5:68625682-68626126	U2OS	brain:	n/a	n/a
11	ELF1	chr5:68625644-68626210	MCF-7	breast:	n/a	n/a
12	POLR2A	chr5:68625857-68625884	MCF-7	breast:	n/a	n/a
13	HDAC2	chr5:68625712-68626236	MCF-7	breast:	n/a	n/a
14	ESR1	chr5:68625838-68626201	T-47D	breast:	n/a	chr5:68625930-68625945
15	ESR1	chr5:68625706-68626195	T-47D	breast:	n/a	chr5:68625930-68625945
16	ESR1	chr5:68625674-68626185	T-47D	breast:	n/a	chr5:68625930-68625945
17	FOSL2	chr5:68625639-68626236	MCF-7	breast:	n/a	chr5:68625986-68625994
18	JUND	chr5:68625714-68626249	T-47D	breast:	n/a	chr5:68625986-68625994
19	GATA3	chr5:68625580-68626215	T-47D	breast:	n/a	n/a
20	ESR1	chr5:68625649-68626270	T-47D	breast:	n/a	chr5:68625930-68625945
21	JUND	chr5:68625686-68626253	MCF-7	breast:	n/a	chr5:68625986-68625994
22	NR2F2	chr5:68625681-68626254	MCF-7	breast:	n/a	n/a
23	GATA3	chr5:68625664-68626197	MCF-7	breast:	n/a	n/a
24	FOXA1	chr5:68625798-68626196	T-47D	breast:	n/a	n/a
25	TCF12	chr5:68625682-68626617	MCF-7	breast:	n/a	n/a
26	ZNF217	chr5:68625788-68626189	MCF-7	breast:	n/a	n/a
27	EP300	chr5:68625787-68626247	T-47D	breast:	n/a	n/a
28	USF2	chr5:68625823-68626049	Hela-S3	cervix:	n/a	n/a
29	GATA3	chr5:68625525-68626214	T-47D	breast:	n/a	n/a
30	GATA3	chr5:68625603-68626248	MCF-7	breast:	n/a	n/a
31	JUND	chr5:68625785-68626231	T-47D	breast:	n/a	chr5:68625986-68625994
32	GATA3	chr5:68625561-68626479	MCF-7	breast:	n/a	n/a
33	TCF7L2	chr5:68625774-68626126	MCF-7	breast:	n/a	n/a
34	EP300	chr5:68625651-68626226	MCF-7	breast:	n/a	n/a
35	SIN3AK20	chr5:68625718-68626282	MCF-7	breast:	n/a	n/a
36	FOS	chr5:68625825-68626042	MCF10A-Er-Src	breast:	n/a	chr5:68625986-68625994
37	HDAC2	chr5:68625658-68626235	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:68623977..68626079-chr5:68626593..68628678,2	K562	blood:
2	chr5:68514182..68515689-chr5:68624413..68626099,2	MCF-7	breast:
3	chr5:68625641..68627490-chr5:68628684..68631572,2	K562	blood:

Variant related genes	Relation type
CHCHD2P2	TF binding region
ENSG00000183323	Chromatin interaction
ENSG00000215006	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv969960	chr5:68613678-68646127	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3515528	chr5:68624487-68653938	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3515529	chr5:68624487-68653938	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv881767	chr5:68625786-68733698	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68565600-68627400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:68576400-68627600	Weak transcription	Brain Substantia Nigra	brain
3	chr5:68576400-68627800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:68576600-68627800	Weak transcription	Brain Angular Gyrus	brain
5	chr5:68577400-68628200	Weak transcription	Small Intestine	intestine
6	chr5:68577600-68627400	Weak transcription	NHEK	skin
7	chr5:68577800-68626600	Weak transcription	A549	lung
8	chr5:68581600-68627600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:68581800-68626800	Weak transcription	Fetal Brain Female	brain
10	chr5:68581800-68627600	Weak transcription	Brain Anterior Caudate	brain
11	chr5:68591600-68627600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:68596000-68626800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:68599600-68627800	Weak transcription	NH-A	brain
14	chr5:68601400-68627600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:68605600-68627400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr5:68609600-68627400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr5:68609600-68627600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:68609800-68627200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:68609800-68627400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:68609800-68627400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:68609800-68627400	Weak transcription	Esophagus	oesophagus
22	chr5:68609800-68627400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:68609800-68627400	Weak transcription	GM12878-XiMat	blood
24	chr5:68609800-68627600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr5:68609800-68627600	Weak transcription	Fetal Thymus	thymus
26	chr5:68609800-68628200	Weak transcription	Right Ventricle	heart
27	chr5:68609800-68628400	Weak transcription	Lung	lung
28	chr5:68610000-68627400	Weak transcription	Dnd41	blood
29	chr5:68610400-68627600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr5:68610600-68627800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr5:68611000-68628200	Weak transcription	Aorta	Aorta
32	chr5:68612400-68627400	Weak transcription	Adipose Nuclei	Adipose
33	chr5:68612800-68626600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:68613800-68627200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr5:68613800-68627400	Weak transcription	Primary B cells from cord blood	blood
36	chr5:68614200-68627400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr5:68616200-68626600	Weak transcription	Colonic Mucosa	Colon
38	chr5:68616400-68627400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr5:68616600-68628200	Weak transcription	Left Ventricle	heart
40	chr5:68616800-68627200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr5:68617000-68627400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr5:68617000-68627600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr5:68617400-68627400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr5:68617600-68626400	Weak transcription	Liver	Liver
45	chr5:68618000-68627400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:68620800-68626400	Weak transcription	Stomach Mucosa	stomach
47	chr5:68621000-68628200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr5:68621400-68627600	Weak transcription	Primary T cells from cord blood	blood
49	chr5:68622000-68627400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:68622800-68626400	Weak transcription	Fetal Intestine Small	intestine

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