Variant report

Variant	rs34331965
Chromosome Location	chr15:31656741-31656742
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:31656531-31658635	K562	blood:	n/a	n/a
2	MYC	chr15:31656603-31657272	MCF10A-Er-Src	breast:	n/a	n/a
3	ZMIZ1	chr15:31656660-31656880	K562	blood:	n/a	n/a
4	MAX	chr15:31656614-31657229	K562	blood:	n/a	n/a
5	EP300	chr15:31656363-31657758	SK-N-SH	brain:	n/a	n/a
6	TBL1XR1	chr15:31656605-31656870	K562	blood:	n/a	n/a
7	JUND	chr15:31656599-31656854	K562	blood:	n/a	chr15:31656655-31656664
8	HCFC1	chr15:31656543-31656968	K562	blood:	n/a	n/a
9	E2F4	chr15:31656732-31657002	MCF10A-Er-Src	breast:	n/a	n/a
10	HA-E2F1	chr15:31656477-31657299	MCF-7	breast:	n/a	n/a
11	TBL1XR1	chr15:31656690-31656782	K562	blood:	n/a	n/a
12	MAX	chr15:31656519-31657209	K562	blood:	n/a	n/a
13	POLR2A	chr15:31656144-31659148	PBDE	blood:	n/a	n/a
14	MAZ	chr15:31656577-31656885	K562	blood:	n/a	n/a
15	EP300	chr15:31656533-31656936	K562	blood:	n/a	n/a
16	GATA1	chr15:31656592-31656994	PBDEFetal	blood:	n/a	n/a
17	MYC	chr15:31656545-31657156	K562	blood:	n/a	n/a
18	MAX	chr15:31656665-31656821	K562	blood:	n/a	n/a
19	MXI1	chr15:31656057-31657768	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr15:31656623-31656985	K562	blood:	n/a	n/a
21	POLR2A	chr15:31656530-31658328	GM12891	blood:	n/a	n/a
22	RCOR1	chr15:31656487-31657143	K562	blood:	n/a	n/a
23	MAX	chr15:31656545-31660529	NB4	blood:	n/a	chr15:31658528-31658538 chr15:31659728-31659743 chr15:31659732-31659742
24	GATA1	chr15:31656267-31657232	PBDE	blood:	n/a	n/a
25	BHLHE40	chr15:31656382-31657004	K562	blood:	n/a	n/a
26	TAL1	chr15:31656534-31656953	K562	blood:	n/a	n/a
27	MYC	chr15:31656740-31659240	NB4	blood:	n/a	chr15:31658528-31658538
28	MYC	chr15:31656623-31657501	K562	blood:	n/a	n/a
29	POLR2A	chr15:31656392-31657617	GM12878	blood:	n/a	n/a
30	RCOR1	chr15:31656706-31657162	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:31656175..31657989-chr15:31664349..31666495,2	MCF-7	breast:
2	chr15:31652135..31653861-chr15:31655364..31657123,2	MCF-7	breast:
3	chr15:31618253..31621608-chr15:31655043..31658553,3	K562	blood:
4	chr15:31655078..31656849-chr15:31662287..31664964,2	MCF-7	breast:
5	chr15:31647650..31653294-chr15:31653476..31658122,6	K562	blood:
6	chr15:31656543..31658317-chr15:31684081..31686006,2	K562	blood:
7	chr15:31656683..31658264-chr15:31690319..31692680,2	K562	blood:
8	chr15:31627136..31629946-chr15:31655058..31657615,2	K562	blood:

No data

Variant related genes	Relation type
KLF13	TF binding region
ENSG00000169926	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs34056696	0.84[EUR][1000 genomes]
rs34682798	0.84[EUR][1000 genomes]
rs35799005	0.84[EUR][1000 genomes]
rs71474656	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71474659	0.84[EUR][1000 genomes]
rs71474660	0.81[EUR][1000 genomes]
rs7172678	0.88[EUR][1000 genomes]
rs753636	0.84[EUR][1000 genomes]
rs8035636	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv932896	chr15:31292475-31730445	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv903838	chr15:31452911-31672128	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv1815415	chr15:31483843-31697213	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats 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	42 gene(s)	inside rSNPs	diseases
7	esv34100	chr15:31496514-31792591	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv903840	chr15:31589970-31800149	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv1050482	chr15:31601016-31672921	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv1048082	chr15:31610245-31667000	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv1045944	chr15:31610245-31672921	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv516681	chr15:31616674-31675453	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	nsv903841	chr15:31616674-31697242	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	nsv903842	chr15:31621321-31697242	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
15	nsv456748	chr15:31621321-31697642	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
16	nsv568801	chr15:31621321-31697642	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
17	esv1810782	chr15:31633161-31697642	Enhancers Flanking Active TSS Weak transcription Genic enhancers 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 miRNA target site	11 gene(s)	inside rSNPs	diseases
18	nsv1051910	chr15:31641254-31672921	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31622800-31657400	Enhancers	Right Atrium	heart
2	chr15:31641200-31658400	Enhancers	Liver	Liver
3	chr15:31646000-31659800	Weak transcription	Fetal Kidney	kidney
4	chr15:31646200-31657400	Enhancers	Brain Anterior Caudate	brain
5	chr15:31646400-31657400	Enhancers	Brain Cingulate Gyrus	brain
6	chr15:31646600-31656800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr15:31646600-31657400	Weak transcription	HSMMtube	muscle
8	chr15:31646600-31657600	Weak transcription	HSMM	muscle
9	chr15:31646600-31658000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:31647600-31660800	Enhancers	Lung	lung
11	chr15:31648000-31660200	Enhancers	Stomach Mucosa	stomach
12	chr15:31650200-31657600	Weak transcription	Osteobl	bone
13	chr15:31651200-31660600	Enhancers	Fetal Intestine Large	intestine
14	chr15:31651400-31657000	Enhancers	Brain Substantia Nigra	brain
15	chr15:31651400-31657400	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr15:31652000-31658400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:31652200-31658400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr15:31652200-31660000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:31652400-31657000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:31653000-31660000	Enhancers	HMEC	breast
21	chr15:31653200-31656800	Enhancers	Fetal Intestine Small	intestine
22	chr15:31653400-31658400	Enhancers	Brain Hippocampus Middle	brain
23	chr15:31653600-31656800	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr15:31653600-31656800	Weak transcription	NHLF	lung
25	chr15:31653600-31658400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:31653800-31657600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:31653800-31660800	Enhancers	Primary hematopoietic stem cells	blood
28	chr15:31653800-31664600	Weak transcription	HepG2	liver
29	chr15:31654000-31656800	Weak transcription	Aorta	Aorta
30	chr15:31654000-31657200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr15:31654000-31657200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr15:31654000-31657600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:31654000-31658000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:31654000-31658000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:31654200-31657200	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr15:31654400-31656800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr15:31654400-31656800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr15:31654400-31656800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr15:31654400-31656800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:31654400-31656800	Enhancers	Duodenum Mucosa	Duodenum
41	chr15:31654400-31657000	Weak transcription	Fetal Stomach	stomach
42	chr15:31654400-31658000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:31654400-31658600	Enhancers	NHEK	skin
44	chr15:31654400-31658800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr15:31654400-31661200	Enhancers	Primary B cells from peripheral blood	blood
46	chr15:31654400-31661400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr15:31654600-31656800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr15:31654800-31657600	Weak transcription	Fetal Brain Female	brain
49	chr15:31654800-31664600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:31655200-31656800	Weak transcription	Colon Smooth Muscle	Colon

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