Variant report

Variant	rs3812797
Chromosome Location	chr12:104850131-104850132
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	chr12:104850060-104850210	HVMF	connective:	n/a	n/a
2	CTCF	chr12:104850000-104850150	NHEK	skin:	n/a	n/a
3	CTCF	chr12:104850083-104851946	SK-N-SH	brain:	n/a	n/a
4	BCL3	chr12:104850047-104850779	A549	lung:	n/a	chr12:104850647-104850656 chr12:104850400-104850413 chr12:104850628-104850637
5	CTCF	chr12:104850060-104850210	RPTEC	kidney:	n/a	n/a
6	CTCF	chr12:104850080-104850230	AoAF	blood vessel:	n/a	n/a
7	POLR2A	chr12:104850118-104851634	PBDE	blood:	n/a	n/a
8	CTCF	chr12:104850000-104850150	HPF	lung:	n/a	n/a
9	RAD21	chr12:104849939-104853412	SK-N-SH	brain:	n/a	chr12:104852428-104852438 chr12:104850891-104850905 chr12:104852427-104852440
10	RCOR1	chr12:104850103-104850771	GM12878	blood:	n/a	n/a
11	RAD21	chr12:104850009-104850901	SK-N-SH_RA	brain:	n/a	n/a
12	SIN3A	chr12:104850057-104852950	H1-hESC	embryonic stem cell:	n/a	chr12:104851756-104851769 chr12:104850923-104850934
13	MXI1	chr12:104849678-104853472	SK-N-SH	brain:	n/a	chr12:104851861-104851870 chr12:104852783-104852798
14	EBF1	chr12:104850105-104850707	GM12878	blood:	n/a	chr12:104850295-104850304 chr12:104850293-104850306 chr12:104850294-104850305
15	CTCF	chr12:104850040-104850190	GM12872	blood:	n/a	n/a
16	CTCF	chr12:104849078-104853089	A549	lung:	n/a	chr12:104852428-104852441
17	MXI1	chr12:104850016-104851333	IMR90	lung:	n/a	n/a
18	CTCF	chr12:104850120-104850270	HEK293	kidney:	n/a	n/a
19	RELA	chr12:104850031-104850808	GM19099	blood:	n/a	n/a
20	RELA	chr12:104850091-104850937	GM18951	blood:	n/a	n/a
21	EBF1	chr12:104850110-104850772	GM12878	blood:	n/a	chr12:104850295-104850304 chr12:104850293-104850306 chr12:104850294-104850305
22	REST	chr12:104850050-104852522	H1-neurons	neurons:	n/a	chr12:104851992-104852005 chr12:104851874-104851887 chr12:104850430-104850443 chr12:104852278-104852291 chr12:104851753-104851766 chr12:104850446-104850466
23	CREB1	chr12:104850046-104851544	A549	lung:	n/a	n/a
24	JUN	chr12:104849352-104853645	K562	blood:	n/a	chr12:104849706-104849718 chr12:104852508-104852517
25	JUND	chr12:104849811-104852084	SK-N-SH	brain:	n/a	n/a
26	MYC	chr12:104850124-104851409	NB4	blood:	n/a	n/a
27	SMC3	chr12:104849383-104852900	SK-N-SH	brain:	n/a	chr12:104850355-104850362 chr12:104851548-104851558 chr12:104851547-104851555
28	MAZ	chr12:104850058-104851790	IMR90	lung:	n/a	n/a
29	BCL3	chr12:104850013-104851760	A549	lung:	n/a	chr12:104850923-104850932 chr12:104850891-104850904 chr12:104850827-104850840 chr12:104850896-104850909 chr12:104851741-104851754 chr12:104851165-104851178 chr12:104850893-104850906 chr12:104850837-104850846 chr12:104850647-104850656 chr12:104850400-104850413 chr12:104850833-104850846 chr12:104850628-104850637 chr12:104850904-104850917 chr12:104850832-104850845
30	CTBP2	chr12:104850061-104853212	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
CHST11	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10778334	0.91[ASN][1000 genomes]
rs12578959	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12580133	1.00[EUR][1000 genomes]
rs12581080	1.00[EUR][1000 genomes]
rs12581557	1.00[EUR][1000 genomes]
rs17035647	1.00[EUR][1000 genomes]
rs3751318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3751319	0.91[ASN][1000 genomes]
rs3751321	0.91[ASN][1000 genomes]
rs3751322	0.91[ASN][1000 genomes]
rs4964796	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4964803	1.00[EUR][1000 genomes]
rs4964804	1.00[EUR][1000 genomes]
rs4964810	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136717	1.00[EUR][1000 genomes]
rs7300417	1.00[EUR][1000 genomes]
rs7301678	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	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr12:104848800-104850200	Flanking Active TSS	A549	lung
2	chr12:104849000-104850200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:104849200-104850200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:104849200-104850200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:104849400-104850200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr12:104849400-104850400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:104849600-104850200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
8	chr12:104849600-104850200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
9	chr12:104849600-104850200	Flanking Active TSS	GM12878-XiMat	blood
10	chr12:104849600-104850400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:104849600-104853200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr12:104849600-104853200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr12:104849800-104850200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:104849800-104850200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:104849800-104850200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:104849800-104850200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr12:104849800-104850200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr12:104849800-104850200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr12:104849800-104850200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr12:104849800-104850200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr12:104849800-104850200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr12:104849800-104850200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:104849800-104850200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr12:104849800-104850200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr12:104849800-104850200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:104849800-104850200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:104849800-104850200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
28	chr12:104849800-104850200	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr12:104849800-104850200	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr12:104849800-104850200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
31	chr12:104849800-104850200	Flanking Active TSS	Fetal Lung	lung
32	chr12:104849800-104850200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
33	chr12:104849800-104850200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
34	chr12:104849800-104850200	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr12:104849800-104850200	Enhancers	Small Intestine	intestine
36	chr12:104849800-104850200	Bivalent Enhancer	Stomach Mucosa	stomach
37	chr12:104849800-104850200	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr12:104849800-104850200	Flanking Active TSS	Thymus	Thymus
39	chr12:104849800-104850200	Flanking Active TSS	HMEC	breast
40	chr12:104849800-104850200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr12:104849800-104850200	Flanking Active TSS	Osteobl	bone
42	chr12:104849800-104850400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:104849800-104850400	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr12:104849800-104850400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:104849800-104850400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr12:104849800-104850400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:104849800-104850400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr12:104849800-104850400	Flanking Active TSS	Fetal Thymus	thymus
49	chr12:104849800-104850400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
50	chr12:104849800-104850400	Flanking Active TSS	Dnd41	blood

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