Variant report

Variant	rs3906650
Chromosome Location	chr12:31516647-31516648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:31516500-31516650	HepG2	liver:	n/a	n/a
2	HNF4A	chr12:31516470-31516655	HepG2	liver:	n/a	n/a
3	HEY1	chr12:31516384-31516717	HepG2	liver:	n/a	n/a
4	MAX	chr12:31516438-31516776	HepG2	liver:	n/a	n/a
5	RAD21	chr12:31515001-31516780	H1-hESC	embryonic stem cell:	n/a	chr12:31516223-31516235
6	MAX	chr12:31514937-31516853	HepG2	liver:	n/a	chr12:31516134-31516144 chr12:31515383-31515393

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:31424984..31425698-chr12:31516137..31516810,2	MCF-7	breast:
2	chr12:31512202..31513960-chr12:31515400..31517453,2	MCF-7	breast:
3	chr12:31476716..31479416-chr12:31514975..31518554,5	K562	blood:
4	chr12:31477240..31480202-chr12:31513504..31517911,10	MCF-7	breast:
5	chr12:31476716..31479352-chr12:31516399..31518554,2	K562	blood:
6	chr12:31478362..31480106-chr12:31515501..31517473,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DENND5B-1	chr12:31516415-31516729	ENSG00000256232

No data

Variant related genes	Relation type
RNU6-318P	TF binding region
ENSG00000139146	Chromatin interaction
ENSG00000177340	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2892637	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3956350	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][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	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31480000-31522800	Weak transcription	Right Atrium	heart
2	chr12:31514800-31517200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr12:31514800-31517200	Enhancers	Fetal Intestine Large	intestine
4	chr12:31514800-31517400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:31514800-31518200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:31515000-31517200	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:31515000-31517200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:31515000-31517200	Enhancers	Fetal Intestine Small	intestine
9	chr12:31515000-31517200	Enhancers	Fetal Kidney	kidney
10	chr12:31515200-31516800	Enhancers	A549	lung
11	chr12:31515400-31516800	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr12:31515400-31517200	Enhancers	Dnd41	blood
13	chr12:31515400-31518200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:31515600-31516800	Enhancers	Stomach Mucosa	stomach
15	chr12:31515600-31517000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:31515600-31517200	Enhancers	Primary hematopoietic stem cells	blood
17	chr12:31515600-31522400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:31515600-31522800	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:31515800-31517200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr12:31515800-31522800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:31516000-31516800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr12:31516000-31516800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:31516000-31516800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr12:31516000-31516800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr12:31516000-31516800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr12:31516000-31516800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr12:31516000-31516800	Enhancers	Colonic Mucosa	Colon
28	chr12:31516000-31517000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:31516000-31517000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:31516000-31517200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:31516000-31517200	Enhancers	Fetal Thymus	thymus
32	chr12:31516000-31517400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr12:31516000-31517400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:31516000-31521800	Weak transcription	Fetal Lung	lung
35	chr12:31516000-31521800	Weak transcription	Hela-S3	cervix
36	chr12:31516000-31523600	Weak transcription	Spleen	Spleen
37	chr12:31516200-31516800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr12:31516200-31516800	Enhancers	Primary T cells from cord blood	blood
39	chr12:31516200-31517000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr12:31516200-31517000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:31516200-31517000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:31516200-31517000	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr12:31516200-31517200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr12:31516200-31517400	Enhancers	Duodenum Mucosa	Duodenum
45	chr12:31516200-31521200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:31516200-31521600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:31516200-31521600	Weak transcription	Lung	lung
48	chr12:31516200-31521800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:31516400-31517000	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr12:31516400-31521600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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