Variant report

Variant	rs57164715
Chromosome Location	chr7:39721385-39721386
allele	A/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	POLR2A	chr7:39720970-39721887	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39719329..39722043-chr7:39722542..39724877,2	K562	blood:

Variant related genes	Relation type
RALA	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13228455	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171612	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859480	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35569526	0.86[EUR][1000 genomes]
rs4587238	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61070404	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462942	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6967563	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969272	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973745	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776621	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805581	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv887971	chr7:39662268-39745775	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv887972	chr7:39666267-39733688	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39672200-39722800	Weak transcription	Hela-S3	cervix
2	chr7:39680000-39721600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr7:39682800-39722000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:39700000-39728200	Weak transcription	Liver	Liver
5	chr7:39701800-39722600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:39701800-39739400	Weak transcription	Esophagus	oesophagus
7	chr7:39702000-39727400	Weak transcription	Fetal Intestine Large	intestine
8	chr7:39706400-39722800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:39707200-39727200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:39707200-39730000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:39708000-39721400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:39708000-39722400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:39710200-39722600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:39710400-39721800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:39710800-39722800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:39712000-39722600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:39712200-39722600	Weak transcription	NHEK	skin
18	chr7:39712200-39722800	Weak transcription	HMEC	breast
19	chr7:39712800-39728400	Weak transcription	Pancreas	Pancrea
20	chr7:39714000-39736800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:39714400-39721400	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:39714800-39723400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:39715000-39736600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr7:39715200-39725000	Weak transcription	Primary T cells from cord blood	blood
25	chr7:39715200-39749400	Weak transcription	Aorta	Aorta
26	chr7:39716000-39722600	Weak transcription	Fetal Stomach	stomach
27	chr7:39716800-39721800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:39716800-39721800	Weak transcription	Left Ventricle	heart
29	chr7:39716800-39721800	Weak transcription	Psoas Muscle	Psoas
30	chr7:39716800-39722000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:39716800-39722600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr7:39716800-39722600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:39716800-39722600	Weak transcription	HSMM	muscle
34	chr7:39716800-39722800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:39716800-39727000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr7:39716800-39727000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:39716800-39727200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:39716800-39727400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:39716800-39728400	Weak transcription	Primary B cells from cord blood	blood
40	chr7:39716800-39729200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:39716800-39735600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr7:39717000-39722600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:39717000-39722600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:39717000-39727400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:39718200-39739800	Weak transcription	Spleen	Spleen
46	chr7:39719000-39721600	Weak transcription	Small Intestine	intestine
47	chr7:39719000-39723000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:39719000-39727200	Weak transcription	Fetal Brain Female	brain
49	chr7:39719200-39722600	Enhancers	HUVEC	blood vessel
50	chr7:39719200-39722600	Weak transcription	NH-A	brain

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