Variant report

Variant	rs28756184
Chromosome Location	chr7:140179818-140179819
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	NRF1	chr7:140177648-140179920	SK-N-SH	brain:	n/a	chr7:140179270-140179279 chr7:140179326-140179337
2	POLR2A	chr7:140178127-140179866	K562	blood:	n/a	n/a
3	GATA2	chr7:140179122-140179921	SH-SY5Y	brain:	n/a	n/a
4	NR2F2	chr7:140177641-140179920	K562	blood:	n/a	n/a
5	SIN3AK20	chr7:140178831-140179825	MCF-7	breast:	n/a	n/a
6	TEAD4	chr7:140177704-140179931	K562	blood:	n/a	n/a
7	MAZ	chr7:140178074-140179830	K562	blood:	n/a	n/a
8	TRIM28	chr7:140178421-140179848	K562	blood:	n/a	n/a
9	CBX3	chr7:140178446-140179854	K562	blood:	n/a	n/a
10	GATA3	chr7:140179614-140179877	SH-SY5Y	brain:	n/a	n/a
11	POLR2A	chr7:140178477-140179867	HepG2	liver:	n/a	n/a
12	HDAC2	chr7:140178987-140179897	K562	blood:	n/a	n/a
13	GATA1	chr7:140178449-140179916	PBDE	blood:	n/a	n/a
14	REST	chr7:140177716-140180003	H1-neurons	neurons:	n/a	chr7:140178741-140178750 chr7:140178743-140178750 chr7:140179205-140179218 chr7:140178342-140178356 chr7:140178734-140178747
15	HMGN3	chr7:140178370-140179822	K562	blood:	n/a	n/a
16	STAT5A	chr7:140178398-140179912	K562	blood:	n/a	chr7:140179237-140179249
17	MXI1	chr7:140177392-140179927	SK-N-SH	brain:	n/a	n/a
18	TBL1XR1	chr7:140178605-140179919	K562	blood:	n/a	n/a
19	RCOR1	chr7:140178044-140179929	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:140175625..140180151-chr7:140394567..140398370,5	MCF-7	breast:
2	chr7:140176812..140180644-chr7:140393947..140398398,4	K562	blood:
3	chr7:139760670..139762884-chr7:140178073..140180883,2	K562	blood:
4	chr7:140152800..140155716-chr7:140177894..140179850,2	MCF-7	breast:
5	chr7:140173004..140174685-chr7:140179512..140182205,2	MCF-7	breast:
6	chr7:140096834..140099391-chr7:140178947..140180902,2	K562	blood:

Variant related genes	Relation type
MKRN1	TF binding region
ENSG00000059378	Chromatin interaction
ENSG00000090266	Chromatin interaction
ENSG00000157800	Chromatin interaction
ENSG00000133606	Chromatin interaction
ENSG00000240889	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10224232	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257086	0.97[AFR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10265395	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246753	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28648799	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34139784	0.88[EUR][1000 genomes]
rs7811221	0.85[ASN][1000 genomes]
rs7811509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464734	chr7:140108096-140217670	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
2	nsv608500	chr7:140108096-140217670	Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv1803443	chr7:140146694-140263109	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140175600-140180000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:140176600-140180000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr7:140177200-140180000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr7:140177400-140180000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr7:140177600-140180000	Active TSS	Thymus	Thymus
6	chr7:140177800-140180000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr7:140177800-140180200	Active TSS	Placenta	Placenta
8	chr7:140178000-140180000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:140178000-140180000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:140178000-140180000	Active TSS	Brain Anterior Caudate	brain
11	chr7:140178000-140180000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:140179000-140180000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:140179200-140180000	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr7:140179400-140180000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:140179400-140180000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:140179400-140180000	Flanking Active TSS	Hela-S3	cervix
17	chr7:140179600-140180000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:140179800-140180000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr7:140179800-140180000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:140179800-140180000	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr7:140179800-140180000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:140179800-140180000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:140179800-140180000	Enhancers	Primary B cells from peripheral blood	blood
24	chr7:140179800-140180000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr7:140179800-140180000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr7:140179800-140180000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr7:140179800-140180000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:140179800-140180000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:140179800-140180000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:140179800-140180000	Enhancers	Adipose Nuclei	Adipose
31	chr7:140179800-140180000	Enhancers	Brain Substantia Nigra	brain
32	chr7:140179800-140180000	Enhancers	Duodenum Mucosa	Duodenum
33	chr7:140179800-140180000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr7:140179800-140180000	Enhancers	Fetal Intestine Large	intestine
35	chr7:140179800-140180000	Enhancers	Fetal Intestine Small	intestine
36	chr7:140179800-140180000	Enhancers	Fetal Thymus	thymus
37	chr7:140179800-140180000	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr7:140179800-140180000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr7:140179800-140180000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr7:140179800-140180000	Enhancers	GM12878-XiMat	blood
41	chr7:140179800-140180000	Bivalent Enhancer	HepG2	liver
42	chr7:140179800-140180000	Active TSS	HMEC	breast
43	chr7:140179800-140180000	Enhancers	HUVEC	blood vessel
44	chr7:140179800-140180000	Enhancers	K562	blood
45	chr7:140179800-140180000	Enhancers	NHEK	skin
46	chr7:140179800-140181000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr7:140179800-140181200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr7:140179800-140181200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:140179800-140183000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr7:140179800-140183400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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