Variant report

Variant	rs73476341
Chromosome Location	chr15:99646299-99646300
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	TCF12	chr15:99645706-99646363	A549	lung:	n/a	n/a
2	E2F6	chr15:99644981-99646636	H1-hESC	embryonic stem cell:	n/a	chr15:99645503-99645511 chr15:99645194-99645203 chr15:99645093-99645102 chr15:99646410-99646420
3	SMARCB1	chr15:99644931-99646559	Hela-S3	cervix:	n/a	n/a
4	SMC3	chr15:99644884-99647125	SK-N-SH	brain:	n/a	chr15:99645149-99645159
5	MAX	chr15:99644889-99646514	H1-hESC	embryonic stem cell:	n/a	chr15:99645146-99645156 chr15:99646282-99646291
6	SIN3AK20	chr15:99644979-99646499	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr15:99644995-99647972	IMR90	lung:	n/a	n/a
8	TEAD4	chr15:99645543-99646451	SK-N-SH	brain:	n/a	n/a
9	NRF1	chr15:99644883-99646442	SK-N-SH	brain:	n/a	chr15:99645093-99645102
10	E2F6	chr15:99644879-99646633	H1-hESC	embryonic stem cell:	n/a	chr15:99644956-99644973 chr15:99645503-99645511 chr15:99645194-99645203 chr15:99645093-99645102 chr15:99646410-99646420
11	TCF7L2	chr15:99645056-99647218	PANC-1	pancreas:	n/a	n/a
12	MAX	chr15:99644895-99646602	H1-hESC	embryonic stem cell:	n/a	chr15:99645146-99645156 chr15:99646282-99646291
13	SIN3A	chr15:99645997-99646590	H1-hESC	embryonic stem cell:	n/a	n/a
14	HA-E2F1	chr15:99644940-99646368	Hela-S3	cervix:	n/a	chr15:99644956-99644973 chr15:99645194-99645203 chr15:99645093-99645102
15	BACH1	chr15:99645817-99646529	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr15:99645006-99646434	A549	lung:	n/a	n/a
17	FOXP2	chr15:99644943-99646537	PFSK-1	brain:	n/a	n/a
18	GABPA	chr15:99645846-99646358	H1-hESC	embryonic stem cell:	n/a	n/a
19	E2F6	chr15:99645017-99646442	Hela-S3	cervix:	n/a	chr15:99645503-99645511 chr15:99645194-99645203 chr15:99645093-99645102 chr15:99646410-99646420
20	POLR2A	chr15:99644908-99646447	A549	lung:	n/a	n/a
21	MAX	chr15:99644790-99646713	A549	lung:	n/a	chr15:99645146-99645156 chr15:99646282-99646291
22	SUZ12	chr15:99645553-99646438	H1-hESC	embryonic stem cell:	n/a	n/a
23	E2F6	chr15:99644880-99646543	A549	lung:	n/a	chr15:99644956-99644973 chr15:99645503-99645511 chr15:99645194-99645203 chr15:99645093-99645102 chr15:99646410-99646420
24	RCOR1	chr15:99644802-99647324	IMR90	lung:	n/a	n/a
25	MAX	chr15:99644880-99646358	ECC-1	luminal epithelium:	n/a	chr15:99645146-99645156 chr15:99646282-99646291
26	CTCF	chr15:99644880-99646494	SK-N-SH	brain:	n/a	chr15:99645144-99645160 chr15:99645126-99645139 chr15:99645146-99645159
27	RAD21	chr15:99644831-99646379	SK-N-SH	brain:	n/a	chr15:99645127-99645140 chr15:99645149-99645161 chr15:99645149-99645159
28	TEAD4	chr15:99645874-99646362	H1-hESC	embryonic stem cell:	n/a	n/a
29	REST	chr15:99645013-99646569	H1-neurons	neurons:	n/a	chr15:99646264-99646274
30	TEAD4	chr15:99645573-99646399	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr15:99644646-99646828	A549	lung:	n/a	chr15:99645144-99645160 chr15:99645126-99645139 chr15:99645146-99645159
32	E2F6	chr15:99645618-99646400	A549	lung:	n/a	n/a
33	POLR2A	chr15:99645070-99646336	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr15:99645023-99646375	H1-neurons	neurons:	n/a	n/a
35	MAX	chr15:99644875-99646509	A549	lung:	n/a	chr15:99645146-99645156 chr15:99646282-99646291
36	CTBP2	chr15:99645816-99646328	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr15:99644956-99646391	SK-N-SH	brain:	n/a	chr15:99645146-99645156 chr15:99646282-99646291

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:99643812..99646594-chr15:99789555..99792592,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259475	TF binding region
ENSG00000103852	Chromatin interaction
ENSG00000168904	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11247061	0.82[EUR][1000 genomes]
rs11630908	0.97[EUR][1000 genomes]
rs12324621	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12437590	0.88[EUR][1000 genomes]
rs1670202	0.82[EUR][1000 genomes]
rs55756566	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73476344	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531079	chr15:98907913-99878547	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1039575	chr15:98982045-99924685	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv869529	chr15:99416774-99903351	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv533375	chr15:99443534-99696221	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1050982	chr15:99450004-99725825	Enhancers Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv530685	chr15:99452377-99713365	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv1045124	chr15:99504843-99847210	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1038870	chr15:99510479-99768374	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
12	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
13	nsv904544	chr15:99524865-99655744	Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	nsv1051782	chr15:99621061-99792967	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
15	nsv916822	chr15:99621061-99878564	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers 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	30 gene(s)	inside rSNPs	diseases
16	nsv949203	chr15:99621061-99932797	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking 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	31 gene(s)	inside rSNPs	diseases
17	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
18	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
19	nsv570716	chr15:99629901-99916332	Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
20	esv3364884	chr15:99643929-99647227	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99644800-99646400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr15:99644800-99646600	Active TSS	NHLF	lung
3	chr15:99644800-99646600	Active TSS	Osteobl	bone
4	chr15:99644800-99646800	Active TSS	Brain Angular Gyrus	brain
5	chr15:99644800-99647200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:99645000-99646400	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr15:99645000-99646400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
8	chr15:99645000-99646400	Active TSS	HSMMtube	muscle
9	chr15:99645000-99646600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:99645000-99646600	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr15:99645000-99646600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:99645000-99646600	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr15:99645000-99646600	Flanking Active TSS	HMEC	breast
14	chr15:99645000-99646600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
15	chr15:99645000-99646800	Flanking Bivalent TSS/Enh	Thymus	Thymus
16	chr15:99645000-99646800	Enhancers	Spleen	Spleen
17	chr15:99645000-99647000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:99645000-99647000	Active TSS	Brain Cingulate Gyrus	brain
19	chr15:99645000-99647400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr15:99645000-99647600	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr15:99645000-99648000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
22	chr15:99645000-99648200	Active TSS	Right Atrium	heart
23	chr15:99645000-99649600	Active TSS	Rectal Smooth Muscle	rectum
24	chr15:99645200-99646400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr15:99645200-99646400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:99645200-99646400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr15:99645200-99646400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:99645200-99646400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:99645200-99646400	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr15:99645200-99646400	Active TSS	Small Intestine	intestine
31	chr15:99645200-99646400	Bivalent/Poised TSS	NHEK	skin
32	chr15:99645200-99646600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:99645200-99646600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:99645200-99646600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr15:99645200-99646600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr15:99645200-99646600	Active TSS	Brain Anterior Caudate	brain
37	chr15:99645200-99646600	Bivalent/Poised TSS	Fetal Brain Female	brain
38	chr15:99645200-99646600	Flanking Active TSS	Pancreas	Pancrea
39	chr15:99645200-99646600	Active TSS	A549	lung
40	chr15:99645200-99646600	Active TSS	HSMM	muscle
41	chr15:99645200-99646800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr15:99645200-99646800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr15:99645200-99646800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr15:99645200-99646800	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr15:99645200-99646800	Active TSS	NHDF-Ad	bronchial
46	chr15:99645200-99647000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr15:99645200-99647200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr15:99645200-99647200	Active TSS	GM12878-XiMat	blood
49	chr15:99645200-99647400	Active TSS	Aorta	Aorta
50	chr15:99645200-99647400	Bivalent/Poised TSS	Fetal Intestine Large	intestine

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