Variant report

Variant	rs73480197
Chromosome Location	chr7:150215280-150215281
allele	C/G
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	E2F4	chr7:150215187-150215560	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150208954..150212624-chr7:150214367..150216129,3	K562	blood:

Variant related genes	Relation type
STRADBP1	TF binding region
ENSG00000179144	Chromatin interaction
ENSG00000213205	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10578	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28469392	0.80[AFR][1000 genomes]
rs7800829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription 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	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1025129	chr7:150146593-150266217	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1031309	chr7:150171651-150222230	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3395746	chr7:150181141-150300680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150211000-150216200	Active TSS	Psoas Muscle	Psoas
2	chr7:150211000-150219000	Active TSS	Right Atrium	heart
3	chr7:150211200-150217000	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr7:150211400-150215400	Active TSS	Left Ventricle	heart
5	chr7:150211400-150217400	Active TSS	Adipose Nuclei	Adipose
6	chr7:150211400-150218600	Active TSS	Duodenum Mucosa	Duodenum
7	chr7:150211600-150215400	Active TSS	Rectal Smooth Muscle	rectum
8	chr7:150211600-150215400	Active TSS	Right Ventricle	heart
9	chr7:150211600-150215400	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr7:150211600-150215800	Active TSS	Monocytes-CD14+_RO01746	blood
11	chr7:150211600-150216000	Active TSS	Fetal Muscle Leg	muscle
12	chr7:150211600-150216800	Active TSS	Primary monocytes fromperipheralblood	blood
13	chr7:150211600-150216800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:150211600-150217000	Active TSS	Primary T cells from cord blood	blood
15	chr7:150211600-150217000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr7:150211800-150215400	Active TSS	Thymus	Thymus
17	chr7:150211800-150216200	Active TSS	GM12878-XiMat	blood
18	chr7:150211800-150216800	Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr7:150211800-150216800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:150211800-150216800	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr7:150211800-150217000	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr7:150212000-150215400	Active TSS	Small Intestine	intestine
23	chr7:150212200-150216200	Active TSS	Fetal Thymus	thymus
24	chr7:150212200-150218600	Active TSS	Primary B cells from cord blood	blood
25	chr7:150212400-150216000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr7:150212600-150216000	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr7:150212800-150217000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:150213000-150215400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr7:150213000-150216800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:150213200-150216800	Active TSS	Primary T cells fromperipheralblood	blood
31	chr7:150213200-150216800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr7:150213200-150217000	Weak transcription	Esophagus	oesophagus
33	chr7:150213200-150217000	Weak transcription	Lung	lung
34	chr7:150213200-150217000	Weak transcription	Spleen	Spleen
35	chr7:150213200-150217200	Weak transcription	Gastric	stomach
36	chr7:150213200-150217200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:150213600-150217200	Weak transcription	Fetal Stomach	stomach
38	chr7:150214000-150218600	Weak transcription	Placenta	Placenta
39	chr7:150214200-150218600	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:150214400-150215400	Active TSS	Fetal Intestine Small	intestine
41	chr7:150214600-150215800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr7:150214600-150217000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:150214600-150217000	Weak transcription	Brain Anterior Caudate	brain
44	chr7:150214600-150217000	Weak transcription	Colonic Mucosa	Colon
45	chr7:150214600-150217000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:150214600-150217000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr7:150214600-150218800	Transcr. at gene 5' and 3'	Dnd41	blood
48	chr7:150214800-150215400	Active TSS	Primary hematopoietic stem cells	blood
49	chr7:150214800-150215400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:150214800-150216200	Active TSS	HUVEC	blood vessel

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