Variant report

Variant	rs7342703
Chromosome Location	chr16:74935232-74935233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:74698032..74700753-chr16:74934562..74936836,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168411	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs10514388	1.00[JPT][hapmap]
rs10514389	0.85[GIH][hapmap];1.00[JPT][hapmap]
rs16950254	0.86[CHB][hapmap]
rs9934255	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
4	nsv1058900	chr16:74753819-75005050	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv542958	chr16:74753819-75005050	Weak transcription Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv431516	chr16:74840166-75099566	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
9	nsv833280	chr16:74855811-75077227	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1059764	chr16:74868327-74989488	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1064546	chr16:74868795-74989488	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv572977	chr16:74873513-74954897	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv526213	chr16:74873513-74990061	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv572978	chr16:74873574-74990004	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1063842	chr16:74896749-74990601	Strong transcription Enhancers Weak transcription Genic 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	6 gene(s)	inside rSNPs	diseases
16	nsv542959	chr16:74896749-74990601	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7342703	TERF2IP	cis	parietal	SCAN
rs7342703	CALB2	cis	cerebellum	SCAN
rs7342703	ADAT1	cis	parietal	SCAN
rs7342703	ZNF23	cis	cerebellum	SCAN
rs7342703	CHST4	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74904800-74944200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:74905200-74938000	Strong transcription	HepG2	liver
3	chr16:74905400-74938200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr16:74905400-74950800	Strong transcription	Liver	Liver
5	chr16:74905600-74938800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:74906200-74993200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr16:74907200-74938200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr16:74911600-74938200	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr16:74912600-74936000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr16:74913400-74946000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:74914400-74938600	Strong transcription	Adipose Nuclei	Adipose
12	chr16:74917000-74938000	Strong transcription	Primary T cells from cord blood	blood
13	chr16:74921800-74938000	Strong transcription	Fetal Thymus	thymus
14	chr16:74923200-74938800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr16:74925600-74939800	Weak transcription	HUVEC	blood vessel
16	chr16:74925600-74947400	Weak transcription	Stomach Mucosa	stomach
17	chr16:74926200-74936600	Strong transcription	Fetal Muscle Leg	muscle
18	chr16:74927200-74941000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr16:74927200-74941400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr16:74927400-74937600	Weak transcription	Right Ventricle	heart
21	chr16:74927400-74940200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr16:74927400-74940600	Weak transcription	Pancreas	Pancrea
23	chr16:74927400-74946000	Weak transcription	Psoas Muscle	Psoas
24	chr16:74927600-74940600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr16:74927600-74945600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr16:74927800-74936200	Weak transcription	Brain Substantia Nigra	brain
27	chr16:74927800-74940600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr16:74927800-74942600	Weak transcription	Gastric	stomach
29	chr16:74927800-74946000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr16:74928000-74941600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr16:74929000-74938200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr16:74929200-74936600	Strong transcription	Fetal Stomach	stomach
33	chr16:74929400-74936600	Enhancers	Fetal Heart	heart
34	chr16:74929400-74938000	Strong transcription	Fetal Muscle Trunk	muscle
35	chr16:74929400-74940400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:74929800-74940600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr16:74930200-74935600	Strong transcription	Fetal Intestine Small	intestine
38	chr16:74930400-74938600	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr16:74930600-74937600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr16:74930600-74938200	Strong transcription	Ovary	ovary
41	chr16:74930800-74940400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr16:74931000-74938800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr16:74931200-74936400	Weak transcription	NHDF-Ad	bronchial
44	chr16:74931200-74940400	Weak transcription	Brain Hippocampus Middle	brain
45	chr16:74931200-74940400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr16:74931200-74943200	Weak transcription	NHLF	lung
47	chr16:74931400-74935600	Weak transcription	K562	blood
48	chr16:74931400-74936200	Weak transcription	Brain Anterior Caudate	brain
49	chr16:74931400-74936200	Weak transcription	Fetal Lung	lung
50	chr16:74931400-74936200	Weak transcription	NH-A	brain

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