Variant report

Variant	rs1212
Chromosome Location	chr9:103217387-103217388
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:103216500..103219242-chr9:103223306..103224968,2	K562	blood:
2	chr9:103215924..103218072-chr9:103234678..103236607,2	K562	blood:
3	chr9:103170121..103172930-chr9:103214537..103217403,2	K562	blood:

Variant related genes	Relation type
ENSG00000241697	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10819783	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1556487	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2151598	0.86[YRI][hapmap]

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	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv825012	chr9:103152205-103256281	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv614955	chr9:103181596-103261227	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103190600-103224600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:103190800-103217600	Weak transcription	Fetal Intestine Large	intestine
3	chr9:103191800-103217600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr9:103191800-103228000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr9:103196200-103226400	Weak transcription	Psoas Muscle	Psoas
6	chr9:103202800-103217400	Weak transcription	Right Ventricle	heart
7	chr9:103203800-103217400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:103204600-103221200	Weak transcription	Fetal Kidney	kidney
9	chr9:103207000-103217400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:103207000-103227400	Weak transcription	Brain Anterior Caudate	brain
11	chr9:103208400-103217400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:103208800-103227200	Weak transcription	Brain Angular Gyrus	brain
13	chr9:103208800-103227800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr9:103209000-103217400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:103209600-103217800	Weak transcription	HepG2	liver
16	chr9:103209600-103227400	Weak transcription	Brain Substantia Nigra	brain
17	chr9:103210000-103217800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr9:103210200-103218200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:103210400-103218400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:103210400-103219200	Strong transcription	HSMM	muscle
21	chr9:103210600-103217800	Strong transcription	Stomach Smooth Muscle	stomach
22	chr9:103211600-103218800	Strong transcription	NHDF-Ad	bronchial
23	chr9:103212000-103217800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr9:103212600-103217400	Weak transcription	GM12878-XiMat	blood
25	chr9:103213000-103218400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr9:103213400-103217600	Strong transcription	NHEK	skin
27	chr9:103214200-103224600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr9:103214400-103217600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr9:103214600-103217600	Weak transcription	Liver	Liver
30	chr9:103214600-103217800	Weak transcription	Fetal Heart	heart
31	chr9:103214600-103218000	Weak transcription	Placenta	Placenta
32	chr9:103214600-103218200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr9:103214600-103219800	Weak transcription	Gastric	stomach
34	chr9:103214600-103221600	Weak transcription	Lung	lung
35	chr9:103214600-103222600	Weak transcription	Thymus	Thymus
36	chr9:103214600-103224800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr9:103215000-103220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:103215000-103222800	Weak transcription	Fetal Stomach	stomach
39	chr9:103215200-103221400	Weak transcription	Esophagus	oesophagus
40	chr9:103215200-103224600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr9:103215600-103217400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr9:103215600-103217400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr9:103215600-103217800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr9:103215600-103218600	Strong transcription	Brain Germinal Matrix	brain
45	chr9:103215600-103219000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr9:103215600-103221800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr9:103215600-103227400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr9:103215600-103231200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:103215800-103217600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:103215800-103218400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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