Variant report

Variant	rs3910071
Chromosome Location	chr15:74424151-74424152
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	POLR2A	chr15:74419752-74427821	H1-neurons	neurons:	n/a	n/a
2	CTBP2	chr15:74424121-74427355	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr15:74419858-74426334	NT2-D1	testis:	n/a	n/a
4	POLR2A	chr15:74423951-74424183	K562	blood:	n/a	n/a
5	TAF1	chr15:74423572-74424176	H1-neurons	neurons:	n/a	n/a
6	REST	chr15:74419476-74430126	H1-neurons	neurons:	n/a	chr15:74421194-74421204 chr15:74423170-74423183 chr15:74421247-74421260 chr15:74422694-74422707
7	SUZ12	chr15:74422653-74427712	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr15:74419400-74427920	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74418719..74421490-chr15:74422292..74425839,3	K562	blood:
2	chr15:74419029..74421443-chr15:74423462..74425989,2	MCF-7	breast:

Variant related genes	Relation type
ISLR2	TF binding region
ENSG00000248540	TF binding region
ENSG00000248540	Chromatin interaction
ENSG00000167178	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28567532	1.00[AMR][1000 genomes]
rs8025339	1.00[AMR][1000 genomes]
rs8039289	1.00[AMR][1000 genomes]

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	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv469619	chr15:74291859-74466321	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv482362	chr15:74291859-74466321	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv833053	chr15:74360156-74555140	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1050884	chr15:74394983-74489413	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1047564	chr15:74408836-74458181	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv827385	chr15:74419539-74429301	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74421800-74424200	Bivalent/Poised TSS	Psoas Muscle	Psoas
2	chr15:74422200-74424600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
3	chr15:74422400-74424200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
4	chr15:74423000-74424800	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chr15:74423000-74425200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:74423000-74428000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr15:74423200-74426600	Bivalent Enhancer	Fetal Heart	heart
8	chr15:74423400-74424600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:74423400-74424800	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr15:74423400-74425000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr15:74423400-74425200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr15:74423400-74425200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
13	chr15:74423400-74426800	Weak transcription	Right Atrium	heart
14	chr15:74423400-74427200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:74423400-74427200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:74423600-74424200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr15:74423600-74424200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:74423600-74424400	Bivalent/Poised TSS	Fetal Brain Male	brain
19	chr15:74423600-74424400	Bivalent/Poised TSS	Right Ventricle	heart
20	chr15:74423600-74425000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr15:74423600-74425400	Weak transcription	Pancreas	Pancrea
22	chr15:74423800-74424200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr15:74423800-74424400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
24	chr15:74423800-74424600	Bivalent/Poised TSS	Fetal Stomach	stomach
25	chr15:74423800-74425000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
26	chr15:74424000-74424200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr15:74424000-74424400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr15:74424000-74424400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
29	chr15:74424000-74424400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr15:74424000-74424400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
31	chr15:74424000-74424400	Flanking Bivalent TSS/Enh	Spleen	Spleen
32	chr15:74424000-74425200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr15:74424000-74426600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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