Variant report

Variant	rs6965296
Chromosome Location	chr7:105457377-105457378
allele	C/G
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	JUND	chr7:105457335-105457895	T-47D	breast:	n/a	n/a
2	ZNF263	chr7:105457013-105457492	HEK293-T-REx	kidney:	n/a	n/a
3	GATA3	chr7:105457269-105457966	MCF-7	breast:	n/a	n/a
4	GATA3	chr7:105457365-105457809	T-47D	breast:	n/a	n/a
5	SIN3AK20	chr7:105457140-105458075	MCF-7	breast:	n/a	n/a
6	EP300	chr7:105457314-105457795	T-47D	breast:	n/a	chr7:105457612-105457622 chr7:105457521-105457531
7	SIN3AK20	chr7:105457209-105457952	MCF-7	breast:	n/a	n/a
8	FOXA1	chr7:105457373-105457783	T-47D	breast:	n/a	chr7:105457613-105457625 chr7:105457611-105457626
9	SIN3A	chr7:105457128-105457424	H1-hESC	embryonic stem cell:	n/a	n/a
10	GATA3	chr7:105457348-105457833	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:105456730..105459355-chr7:105465171..105468141,4	K562	blood:
2	chr7:105456255..105458497-chr7:105460627..105462300,2	K562	blood:
3	chr7:105456730..105459355-chr7:105466256..105468141,2	K562	blood:
4	chr7:105455934..105458795-chr7:105459521..105461021,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226624	TF binding region
ENSG00000226624	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10258171	1.00[CEU][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10487836	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11979996	1.00[CEU][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4730108	1.00[CEU][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62482787	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62482788	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs740308	1.00[CEU][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027213	chr7:105438610-106022869	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105430200-105479200	Weak transcription	Aorta	Aorta
2	chr7:105446400-105471200	Weak transcription	Lung	lung
3	chr7:105446800-105470000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:105446800-105470200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:105446800-105471200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:105447000-105470000	Weak transcription	Ovary	ovary
7	chr7:105447200-105470200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:105447600-105470000	Weak transcription	NH-A	brain
9	chr7:105447800-105470600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:105448000-105460000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:105448200-105460800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:105448600-105465000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:105448800-105463200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:105448800-105470400	Weak transcription	Fetal Muscle Leg	muscle
15	chr7:105449000-105479200	Weak transcription	Esophagus	oesophagus
16	chr7:105449600-105458000	Weak transcription	Fetal Thymus	thymus
17	chr7:105450200-105466400	Weak transcription	NHLF	lung
18	chr7:105450400-105457400	Weak transcription	Primary T cells from cord blood	blood
19	chr7:105450400-105460000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:105450400-105470200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:105450800-105459000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:105450800-105463200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:105450800-105470200	Weak transcription	NHEK	skin
24	chr7:105451200-105462600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr7:105451600-105462000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:105452400-105457800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr7:105452400-105464600	Weak transcription	Fetal Intestine Large	intestine
28	chr7:105452400-105467400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:105452400-105471200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:105452600-105460000	Weak transcription	Fetal Stomach	stomach
31	chr7:105452600-105470800	Weak transcription	Small Intestine	intestine
32	chr7:105452600-105471200	Weak transcription	Right Ventricle	heart
33	chr7:105452800-105465800	Weak transcription	Liver	Liver
34	chr7:105452800-105470400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:105454400-105458200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr7:105454600-105457600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:105455400-105457800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:105455400-105458800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr7:105455600-105457800	Enhancers	Colon Smooth Muscle	Colon
40	chr7:105455600-105457800	Enhancers	GM12878-XiMat	blood
41	chr7:105455800-105457600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:105456000-105457400	Enhancers	Right Atrium	heart
43	chr7:105456000-105458200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:105456200-105457400	Enhancers	Primary B cells from cord blood	blood
45	chr7:105456200-105457400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr7:105456200-105470200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr7:105456400-105457400	Enhancers	Stomach Smooth Muscle	stomach
48	chr7:105456400-105459600	Weak transcription	Fetal Intestine Small	intestine
49	chr7:105456600-105457400	Enhancers	Primary B cells from peripheral blood	blood
50	chr7:105456600-105457600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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