Variant report

Variant	rs7413400
Chromosome Location	chr1:227326524-227326525
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227314587..227318154-chr1:227324311..227326852,3	MCF-7	breast:
2	chr1:227322546..227324104-chr1:227325475..227327194,2	K562	blood:
3	chr1:227316215..227319084-chr1:227324943..227327660,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10799379	0.92[ASN][1000 genomes]
rs10799382	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10799390	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916077	0.87[ASN][1000 genomes]
rs12727754	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3754419	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4653801	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv832792	chr1:227211378-227364992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv873239	chr1:227222125-227361072	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv468227	chr1:227223736-227340790	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv549269	chr1:227223736-227340790	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873240	chr1:227228946-227361072	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv873241	chr1:227242247-227361072	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv549270	chr1:227290139-227361072	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv2830098	chr1:227295716-227422234	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227214800-227329200	Weak transcription	Right Ventricle	heart
2	chr1:227259400-227349000	Weak transcription	Colonic Mucosa	Colon
3	chr1:227272800-227331000	Weak transcription	Lung	lung
4	chr1:227286400-227328200	Weak transcription	Brain Germinal Matrix	brain
5	chr1:227287400-227360800	Weak transcription	Psoas Muscle	Psoas
6	chr1:227288200-227332400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:227288400-227343000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:227288400-227398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:227288600-227328200	Weak transcription	Fetal Stomach	stomach
10	chr1:227288600-227332400	Weak transcription	NHLF	lung
11	chr1:227288600-227333600	Weak transcription	Esophagus	oesophagus
12	chr1:227288800-227330000	Weak transcription	NHDF-Ad	bronchial
13	chr1:227295200-227346400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:227298600-227351800	Weak transcription	Hela-S3	cervix
15	chr1:227299800-227332600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:227300000-227328600	Weak transcription	Fetal Brain Female	brain
17	chr1:227300000-227329200	Weak transcription	Aorta	Aorta
18	chr1:227300000-227333800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:227300000-227379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:227300200-227334400	Weak transcription	Stomach Mucosa	stomach
21	chr1:227300600-227326600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:227311000-227329200	Weak transcription	Pancreas	Pancrea
23	chr1:227311000-227329400	Weak transcription	Fetal Intestine Small	intestine
24	chr1:227314000-227326800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:227314000-227327800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:227314200-227327800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:227314200-227327800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:227314200-227329400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:227316200-227326600	Weak transcription	NH-A	brain
30	chr1:227316600-227352200	Weak transcription	Gastric	stomach
31	chr1:227316800-227326600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:227316800-227328200	Weak transcription	Left Ventricle	heart
33	chr1:227316800-227328400	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:227316800-227329000	Weak transcription	Placenta	Placenta
35	chr1:227316800-227329200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:227316800-227331000	Weak transcription	HSMMtube	muscle
37	chr1:227317000-227374200	Weak transcription	HepG2	liver
38	chr1:227317200-227328200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:227317200-227331000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:227317600-227331000	Weak transcription	NHEK	skin
41	chr1:227318200-227329000	Weak transcription	Fetal Kidney	kidney
42	chr1:227319600-227332400	Weak transcription	Brain Angular Gyrus	brain
43	chr1:227319800-227330600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:227320400-227327600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:227322600-227327200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:227323200-227342600	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:227323200-227346400	Weak transcription	Brain Substantia Nigra	brain
48	chr1:227323400-227328600	Weak transcription	Ovary	ovary
49	chr1:227323400-227330600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:227324200-227348400	Weak transcription	Placenta Amnion	Placenta Amnion

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