Variant report

Variant	rs17030795
Chromosome Location	chr4:102048076-102048077
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12639641	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs12647627	0.85[CHB][hapmap]
rs17030767	0.85[CHB][hapmap]
rs17829777	0.80[CEU][hapmap]
rs2102347	0.91[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs28517387	0.90[ASN][1000 genomes]
rs34505183	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6856475	0.91[YRI][hapmap]
rs71614685	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73833224	0.89[ASN][1000 genomes]
rs7438333	0.81[JPT][hapmap]

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	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv879671	chr4:101989816-102048076	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv879672	chr4:101989816-102058842	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv879674	chr4:102002123-102048076	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
6	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
8	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Anorexia nervosa	24514567	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17030795	BANK1	cis	parietal	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102025000-102048200	Weak transcription	Left Ventricle	heart
2	chr4:102025600-102049200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:102026200-102068600	Weak transcription	Primary T cells from cord blood	blood
4	chr4:102030200-102049200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:102030400-102049600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:102036600-102049600	Weak transcription	Fetal Intestine Small	intestine
7	chr4:102037800-102048400	Weak transcription	HMEC	breast
8	chr4:102044600-102049600	Weak transcription	Spleen	Spleen
9	chr4:102045800-102048400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:102046400-102048200	Enhancers	Brain Angular Gyrus	brain
11	chr4:102046400-102048800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:102046400-102049200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:102046400-102049400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:102046400-102049400	Enhancers	NHDF-Ad	bronchial
15	chr4:102046400-102050400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr4:102046400-102051400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:102046600-102048400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:102046600-102049000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:102046600-102049000	Enhancers	Osteobl	bone
20	chr4:102046600-102049200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr4:102046600-102049600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:102046600-102058600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:102046800-102048200	Weak transcription	Psoas Muscle	Psoas
24	chr4:102046800-102049600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:102046800-102058600	Weak transcription	Gastric	stomach
26	chr4:102047000-102048400	Weak transcription	Primary B cells from cord blood	blood
27	chr4:102047000-102048800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr4:102047000-102049200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr4:102047200-102048400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr4:102047400-102048800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:102047600-102048800	Enhancers	HSMM	muscle
32	chr4:102047600-102051600	Enhancers	Primary B cells from peripheral blood	blood
33	chr4:102047800-102048200	Enhancers	Rectal Smooth Muscle	rectum
34	chr4:102047800-102049200	Enhancers	Colon Smooth Muscle	Colon
35	chr4:102047800-102049200	Enhancers	HSMMtube	muscle
36	chr4:102048000-102048200	Enhancers	Brain Anterior Caudate	brain
37	chr4:102048000-102048400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr4:102048000-102048400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:102048000-102048600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:102048000-102048600	Enhancers	Small Intestine	intestine
41	chr4:102048000-102049400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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