Variant report

Variant	rs7804286
Chromosome Location	chr7:127962032-127962033
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	CTCF	chr7:127962017-127962605	HCT-116	colon:	n/a	n/a
2	POLR2A	chr7:127961840-127962033	HepG2	liver:	n/a	n/a
3	RAD21	chr7:127961986-127962613	HCT-116	colon:	n/a	n/a
4	RAD21	chr7:127961971-127962482	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr7:127961980-127962130	GM12871	blood:	n/a	n/a
6	CTCF	chr7:127962031-127962588	MCF-7	breast:	n/a	n/a
7	CTCF	chr7:127961941-127962731	A549	lung:	n/a	n/a
8	SMC3	chr7:127962022-127962613	SK-N-SH	brain:	n/a	n/a
9	CTCF	chr7:127961985-127962743	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127348744..127349408-chr7:127961828..127962770,2	K562	blood:
2	chr11:108664757..108665257-chr7:127961879..127962420,2	MCF-7	breast:

Variant related genes	Relation type
RBM28	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11554671	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs359660	1.00[EUR][1000 genomes]
rs359662	1.00[EUR][1000 genomes]
rs61733109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6467173	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6948206	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6959976	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6970039	0.98[AFR][1000 genomes]
rs7799251	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7799853	1.00[AMR][1000 genomes]

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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127939400-127962800	Weak transcription	Right Atrium	heart
2	chr7:127939600-127982200	Weak transcription	Stomach Mucosa	stomach
3	chr7:127940000-127980800	Strong transcription	Fetal Muscle Trunk	muscle
4	chr7:127940400-127980000	Strong transcription	Stomach Smooth Muscle	stomach
5	chr7:127940600-127980000	Strong transcription	Liver	Liver
6	chr7:127940800-127963800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:127940800-127971400	Strong transcription	Fetal Brain Female	brain
8	chr7:127941400-127963400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:127941600-127979600	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:127941600-127980000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:127942000-127980400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:127942000-127980600	Strong transcription	Fetal Muscle Leg	muscle
13	chr7:127942600-127979600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:127943000-127964800	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:127943000-127969000	Strong transcription	Primary B cells from cord blood	blood
16	chr7:127943000-127979800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:127943000-127979800	Strong transcription	Fetal Intestine Large	intestine
18	chr7:127943000-127981200	Strong transcription	Dnd41	blood
19	chr7:127943000-127982000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:127943200-127980400	Strong transcription	Duodenum Mucosa	Duodenum
21	chr7:127943200-127981600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:127943400-127979400	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:127943400-127979800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:127943400-127980000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:127943400-127980000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:127943400-127980000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:127943400-127981400	Strong transcription	Primary B cells from peripheral blood	blood
28	chr7:127943400-127981600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:127944400-127965800	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr7:127944400-127971600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:127944400-127980000	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr7:127944400-127980000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr7:127944400-127980200	Strong transcription	Placenta	Placenta
34	chr7:127944400-127980600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr7:127944800-127962400	Strong transcription	HSMMtube	muscle
36	chr7:127945200-127962400	Strong transcription	Right Ventricle	heart
37	chr7:127945200-127980000	Strong transcription	GM12878-XiMat	blood
38	chr7:127945400-127979200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:127945600-127967400	Strong transcription	Brain Substantia Nigra	brain
40	chr7:127945600-127971600	Strong transcription	NHEK	skin
41	chr7:127945600-127979400	Strong transcription	Brain Germinal Matrix	brain
42	chr7:127945800-127963400	Strong transcription	Brain Anterior Caudate	brain
43	chr7:127945800-127967200	Strong transcription	Rectal Smooth Muscle	rectum
44	chr7:127946000-127969400	Strong transcription	HUVEC	blood vessel
45	chr7:127948000-127963400	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr7:127949200-127963200	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr7:127949600-127978800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:127949600-127980000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr7:127949800-127965000	Strong transcription	NH-A	brain
50	chr7:127949800-127969000	Strong transcription	Brain Angular Gyrus	brain

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