Variant report

Variant	rs13217912
Chromosome Location	chr6:144165916-144165917
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143827995..143830222-chr6:144165832..144168637,2	K562	blood:
2	chr6:144162948..144166199-chr6:144325900..144330312,6	K562	blood:
3	chr6:144162737..144166210-chr6:144175633..144179990,5	K562	blood:
4	chr6:144127689..144129702-chr6:144164044..144166311,2	K562	blood:
5	chr6:144163914..144166210-chr6:144177303..144180318,3	K562	blood:

Variant related genes	Relation type
ENSG00000257065	Chromatin interaction
ENSG00000270890	Chromatin interaction
ENSG00000118495	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13202317	1.00[AFR][1000 genomes]
rs2474152	1.00[AFR][1000 genomes]
rs34387983	0.89[EUR][1000 genomes]
rs4379308	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1034894	chr6:144148566-144170036	Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144164800-144166000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:144165200-144166000	Flanking Active TSS	Dnd41	blood
3	chr6:144165200-144166400	Weak transcription	Colonic Mucosa	Colon
4	chr6:144165200-144169800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:144165400-144166000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:144165400-144166000	Enhancers	Brain Germinal Matrix	brain
7	chr6:144165400-144166000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:144165400-144166200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:144165400-144166200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
10	chr6:144165400-144166200	Weak transcription	Lung	lung
11	chr6:144165400-144166200	Weak transcription	Ovary	ovary
12	chr6:144165400-144166400	Weak transcription	Aorta	Aorta
13	chr6:144165400-144166400	Weak transcription	Spleen	Spleen
14	chr6:144165400-144166600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr6:144165400-144166600	Weak transcription	Gastric	stomach
16	chr6:144165400-144166800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:144165400-144168200	Weak transcription	Esophagus	oesophagus
18	chr6:144165400-144168400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:144165400-144172800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:144165400-144178400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr6:144165600-144166000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr6:144165600-144166000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:144165600-144166000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:144165600-144166000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:144165600-144166000	Weak transcription	Brain Anterior Caudate	brain
26	chr6:144165600-144166000	Weak transcription	Brain Substantia Nigra	brain
27	chr6:144165600-144166000	Weak transcription	Fetal Brain Male	brain
28	chr6:144165600-144166000	Genic enhancers	Fetal Intestine Large	intestine
29	chr6:144165600-144166000	Weak transcription	Fetal Kidney	kidney
30	chr6:144165600-144166000	Genic enhancers	Fetal Muscle Trunk	muscle
31	chr6:144165600-144166000	Genic enhancers	Fetal Thymus	thymus
32	chr6:144165600-144166000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr6:144165600-144166000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr6:144165600-144166000	Active TSS	Rectal Smooth Muscle	rectum
35	chr6:144165600-144166200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr6:144165600-144166200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr6:144165600-144166200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr6:144165600-144166200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr6:144165600-144166200	Enhancers	Adipose Nuclei	Adipose
40	chr6:144165600-144166200	Weak transcription	Thymus	Thymus
41	chr6:144165600-144166200	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr6:144165600-144166400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr6:144165600-144166400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:144165600-144166400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:144165600-144166400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
46	chr6:144165600-144166400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr6:144165600-144166400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
48	chr6:144165600-144166400	Genic enhancers	HUVEC	blood vessel
49	chr6:144165600-144166600	Weak transcription	Colon Smooth Muscle	Colon
50	chr6:144165600-144166800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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