Variant report

Variant	rs11921619
Chromosome Location	chr3:137787465-137787466
allele	A/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	YY1	chr3:137787422-137787695	GM12878	blood:	n/a	n/a
2	POU2F2	chr3:137787413-137787746	GM12891	blood:	n/a	n/a
3	CTCF	chr3:137787463-137787723	LNCaP	prostate:	n/a	chr3:137787598-137787614 chr3:137787600-137787609 chr3:137787597-137787615 chr3:137787599-137787620
4	CTCF	chr3:137787444-137787751	MCF-7	breast:	n/a	chr3:137787598-137787614 chr3:137787600-137787609 chr3:137787597-137787615 chr3:137787599-137787620
5	YY1	chr3:137787291-137787786	GM12878	blood:	n/a	n/a
6	CTCF	chr3:137787369-137787916	MCF-7	breast:	n/a	chr3:137787598-137787614 chr3:137787600-137787609 chr3:137787597-137787615 chr3:137787599-137787620
7	RAD21	chr3:137787305-137787845	HepG2	liver:	n/a	chr3:137787598-137787617
8	CTCF	chr3:137787428-137787763	GM12891	blood:	n/a	chr3:137787598-137787614 chr3:137787600-137787609 chr3:137787597-137787615 chr3:137787599-137787620
9	RAD21	chr3:137787457-137787812	SK-N-SH_RA	brain:	n/a	chr3:137787598-137787617
10	SMC3	chr3:137787382-137787875	GM12878	blood:	n/a	chr3:137787599-137787613 chr3:137787470-137787478 chr3:137787599-137787606
11	MAX	chr3:137787438-137787710	GM12878	blood:	n/a	n/a
12	BHLHE40	chr3:137787456-137787761	K562	blood:	n/a	chr3:137787472-137787488
13	RAD21	chr3:137787322-137787927	MCF-7	breast:	n/a	chr3:137787598-137787617
14	CHD2	chr3:137787435-137787776	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr3:137787413-137787769	ECC-1	luminal epithelium:	n/a	chr3:137787598-137787614 chr3:137787600-137787609 chr3:137787597-137787615 chr3:137787599-137787620
16	MXI1	chr3:137787397-137787801	HepG2	liver:	n/a	n/a
17	SIN3A	chr3:137787439-137787823	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr3:137787406-137787893	HepG2	liver:	n/a	chr3:137787598-137787617
19	CTCF	chr3:137787431-137787758	MCF-7	breast:	n/a	chr3:137787598-137787614 chr3:137787600-137787609 chr3:137787597-137787615 chr3:137787599-137787620
20	CTCF	chr3:137787439-137787771	Spleen_OC	spleen:	n/a	chr3:137787598-137787614 chr3:137787600-137787609 chr3:137787597-137787615 chr3:137787599-137787620
21	CTCF	chr3:137787344-137787837	GM12878	blood:	n/a	chr3:137787598-137787614 chr3:137787600-137787609 chr3:137787597-137787615 chr3:137787599-137787620
22	JUND	chr3:137787440-137787793	K562	blood:	n/a	n/a
23	RAD21	chr3:137787334-137787970	A549	lung:	n/a	chr3:137787598-137787617
24	RCOR1	chr3:137787462-137787701	GM12878	blood:	n/a	n/a
25	WRNIP1	chr3:137787439-137787741	GM12878	blood:	n/a	n/a
26	CTCF	chr3:137787413-137787806	K562	blood:	n/a	chr3:137787598-137787614 chr3:137787600-137787609 chr3:137787597-137787615 chr3:137787599-137787620
27	CTCF	chr3:137787442-137787748	GM13977	blood:	n/a	chr3:137787598-137787614 chr3:137787600-137787609 chr3:137787597-137787615 chr3:137787599-137787620
28	CTCF	chr3:137787428-137787751	SK-N-SH_RA	brain:	n/a	chr3:137787598-137787614 chr3:137787600-137787609 chr3:137787597-137787615 chr3:137787599-137787620
29	SMC3	chr3:137787366-137787973	Hela-S3	cervix:	n/a	chr3:137787599-137787613 chr3:137787470-137787478 chr3:137787599-137787606
30	CTCF	chr3:137787429-137787757	A549	lung:	n/a	chr3:137787598-137787614 chr3:137787600-137787609 chr3:137787597-137787615 chr3:137787599-137787620
31	RAD21	chr3:137787289-137787935	A549	lung:	n/a	chr3:137787598-137787617
32	CTCF	chr3:137787397-137787745	A549	lung:	n/a	chr3:137787598-137787614 chr3:137787600-137787609 chr3:137787597-137787615 chr3:137787599-137787620
33	CTCF	chr3:137787354-137787759	T-47D	breast:	n/a	chr3:137787598-137787614 chr3:137787600-137787609 chr3:137787597-137787615 chr3:137787599-137787620
34	RAD21	chr3:137787275-137787909	H1-hESC	embryonic stem cell:	n/a	chr3:137787598-137787617
35	CTCF	chr3:137787426-137787745	ProgFib	skin:	n/a	chr3:137787598-137787614 chr3:137787600-137787609 chr3:137787597-137787615 chr3:137787599-137787620
36	TBL1XR1	chr3:137787452-137787793	GM12878	blood:	n/a	n/a
37	ELF1	chr3:137787319-137787665	GM12878	blood:	n/a	n/a
38	ZNF143	chr3:137787450-137787760	Hela-S3	cervix:	n/a	n/a
39	RAD21	chr3:137787372-137787840	HepG2	liver:	n/a	chr3:137787598-137787617
40	MAZ	chr3:137787418-137787766	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr3:137787438-137787765	GM19239	blood:	n/a	chr3:137787598-137787614 chr3:137787600-137787609 chr3:137787597-137787615 chr3:137787599-137787620
42	ZNF143	chr3:137787397-137787814	GM12878	blood:	n/a	n/a
43	TCF12	chr3:137787453-137787678	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr3:137787371-137787883	IMR90	lung:	n/a	chr3:137787598-137787614 chr3:137787600-137787609 chr3:137787597-137787615 chr3:137787599-137787620
45	CTCF	chr3:137787433-137787764	MCF-7	breast:	n/a	chr3:137787598-137787614 chr3:137787600-137787609 chr3:137787597-137787615 chr3:137787599-137787620
46	CTCF	chr3:137787422-137787755	Fibrobl	skin:	n/a	chr3:137787598-137787614 chr3:137787600-137787609 chr3:137787597-137787615 chr3:137787599-137787620
47	CTCF	chr3:137787389-137787855	HepG2	liver:	n/a	chr3:137787598-137787614 chr3:137787600-137787609 chr3:137787597-137787615 chr3:137787599-137787620
48	EP300	chr3:137787410-137787726	GM12878	blood:	n/a	chr3:137787471-137787487
49	TCF12	chr3:137787359-137787843	ECC-1	luminal epithelium:	n/a	chr3:137787428-137787438
50	CTCF	chr3:137787455-137787744	Pancreas_OC	pancreas:	n/a	chr3:137787598-137787614 chr3:137787600-137787609 chr3:137787597-137787615 chr3:137787599-137787620

No.	Distal block	Cell Line	Cell type
1	chr3:137781336..137783358-chr3:137787171..137788980,2	MCF-7	breast:
2	chr3:137787211..137788408-chr3:137837411..137838466,26	MCF-7	breast:
3	chr3:137787348..137788077-chr3:137837494..137838376,4	K562	blood:
4	chr3:137786807..137788879-chr3:137836537..137838505,22	MCF-7	breast:

Variant related genes	Relation type
DZIP1L	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11917468	0.86[ASW][hapmap];1.00[MEX][hapmap]
rs16847931	1.00[MEX][hapmap]
rs6783053	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6789862	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2757890	chr3:137611789-137933835	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2759180	chr3:137611789-137933835	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2751978	chr3:137715302-137890750	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1007857	chr3:137767454-137843106	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1008563	chr3:137776151-137801394	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1002136	chr3:137776151-137806500	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv519971	chr3:137782655-137801213	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv522591	chr3:137782655-137801213	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137744400-137792000	Weak transcription	Fetal Kidney	kidney
2	chr3:137763000-137797600	Weak transcription	Hela-S3	cervix
3	chr3:137767200-137791800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:137768200-137787600	Weak transcription	A549	lung
5	chr3:137772800-137792200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:137777800-137790000	Weak transcription	Brain Germinal Matrix	brain
7	chr3:137778200-137800600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:137778600-137787600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:137778800-137800400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:137779200-137792400	Strong transcription	Fetal Stomach	stomach
11	chr3:137779600-137787600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:137779800-137787600	Strong transcription	Adipose Nuclei	Adipose
13	chr3:137780000-137792600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:137780000-137792600	Strong transcription	Fetal Muscle Trunk	muscle
15	chr3:137780000-137797600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr3:137780000-137813400	Weak transcription	HUVEC	blood vessel
17	chr3:137780200-137787600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:137780400-137787600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:137780400-137792400	Strong transcription	Stomach Smooth Muscle	stomach
20	chr3:137780600-137788000	Strong transcription	Fetal Muscle Leg	muscle
21	chr3:137780600-137791600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:137780600-137811600	Weak transcription	Psoas Muscle	Psoas
23	chr3:137780800-137800600	Weak transcription	Brain Hippocampus Middle	brain
24	chr3:137781000-137833200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr3:137781200-137787600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:137781400-137796600	Weak transcription	NHEK	skin
27	chr3:137781800-137791000	Strong transcription	NHLF	lung
28	chr3:137781800-137796200	Weak transcription	Fetal Heart	heart
29	chr3:137782000-137787800	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr3:137782000-137789800	Strong transcription	HSMM	muscle
31	chr3:137782000-137790600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr3:137782000-137790800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:137782000-137791400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:137782200-137787600	Strong transcription	Osteobl	bone
35	chr3:137782200-137791200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:137782400-137794600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr3:137782600-137800600	Weak transcription	Placenta	Placenta
38	chr3:137783000-137788000	Enhancers	Stomach Mucosa	stomach
39	chr3:137783000-137802000	Weak transcription	Fetal Brain Female	brain
40	chr3:137783200-137811600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr3:137783200-137821200	Weak transcription	Colonic Mucosa	Colon
42	chr3:137783400-137791400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr3:137783800-137789600	Weak transcription	Spleen	Spleen
44	chr3:137783800-137797400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr3:137784200-137791600	Weak transcription	Esophagus	oesophagus
46	chr3:137784400-137795000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:137784600-137787600	Strong transcription	Fetal Intestine Small	intestine
48	chr3:137785000-137801000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr3:137785400-137805600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:137785600-137788400	Strong transcription	Colon Smooth Muscle	Colon

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