Variant report

Variant	rs7806835
Chromosome Location	chr7:107265403-107265404
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107264623..107267191-chr7:107267467..107270928,3	K562	blood:
2	chr7:107258452..107261266-chr7:107264575..107266794,3	K562	blood:
3	chr7:107236873..107239093-chr7:107263842..107266780,2	MCF-7	breast:
4	chr7:107264096..107266751-chr7:107299056..107301261,2	K562	blood:
5	chr7:107264623..107267190-chr7:107267957..107271121,3	K562	blood:

Variant related genes	Relation type
ENSG00000091137	Chromatin interaction
ENSG00000250474	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10237948	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10258385	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10273733	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10274041	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13228252	0.80[EUR][1000 genomes]
rs2107713	0.80[EUR][1000 genomes]
rs2178497	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2293658	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2395907	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2712229	0.84[EUR][1000 genomes]
rs2807	0.86[ASN][1000 genomes]
rs2808	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2894466	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2894475	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3779494	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3779495	0.82[ASN][1000 genomes]
rs3801944	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3801948	0.81[EUR][1000 genomes]
rs7793613	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7803102	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7809950	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv482365	chr7:107122401-107271861	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7806835	BCAP29	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107221200-107272000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:107221400-107272400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:107221400-107276000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:107235200-107271800	Weak transcription	Small Intestine	intestine
5	chr7:107235800-107268200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:107236000-107270800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:107238000-107272000	Weak transcription	Esophagus	oesophagus
8	chr7:107255400-107271600	Weak transcription	Pancreas	Pancrea
9	chr7:107255600-107271600	Weak transcription	Brain Substantia Nigra	brain
10	chr7:107255600-107272000	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:107255800-107266200	Weak transcription	Psoas Muscle	Psoas
12	chr7:107255800-107267400	Weak transcription	Fetal Thymus	thymus
13	chr7:107256200-107269600	Weak transcription	Brain Angular Gyrus	brain
14	chr7:107256400-107272800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:107256800-107268800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:107256800-107269000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:107256800-107271600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:107256800-107278600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:107257000-107269200	Weak transcription	Brain Germinal Matrix	brain
20	chr7:107257400-107268600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr7:107257600-107266000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr7:107257800-107270600	Weak transcription	Brain Anterior Caudate	brain
23	chr7:107257800-107271000	Weak transcription	A549	lung
24	chr7:107258200-107271800	Weak transcription	Fetal Brain Male	brain
25	chr7:107258800-107272800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:107259000-107266200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:107259400-107269000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:107261600-107269200	Weak transcription	Right Ventricle	heart
29	chr7:107261600-107272000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:107261600-107273800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr7:107262200-107266000	Weak transcription	HSMM	muscle
32	chr7:107262200-107272200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr7:107262400-107271000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:107262400-107271200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:107262600-107269600	Weak transcription	Ovary	ovary
36	chr7:107262800-107269200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:107262800-107269400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:107263000-107268400	Weak transcription	Primary B cells from cord blood	blood
39	chr7:107263000-107268600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:107263000-107268800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:107263000-107269800	Weak transcription	Colon Smooth Muscle	Colon
42	chr7:107263000-107270000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:107263000-107273800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr7:107263200-107269200	Weak transcription	Fetal Brain Female	brain
45	chr7:107263200-107271200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr7:107263400-107268800	Weak transcription	NHLF	lung
47	chr7:107263400-107269600	Weak transcription	Fetal Intestine Small	intestine
48	chr7:107263400-107269600	Weak transcription	Spleen	Spleen
49	chr7:107263400-107272200	Weak transcription	Fetal Heart	heart
50	chr7:107263400-107272800	Weak transcription	Muscle Satellite Cultured Cells	--

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