Variant report

Variant	rs544752680
Chromosome Location	chr8:126200414-126200415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126198558..126200941-chr8:126203635..126206340,3	K562	blood:
2	chr8:126198688..126200568-chr8:126203635..126206517,2	K562	blood:
3	chr8:126192440..126194521-chr8:126198812..126200912,2	K562	blood:
4	chr8:126199463..126202263-chr8:126440373..126443128,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv1034798	chr8:126179383-126241525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv981979	chr8:126200290-126201826	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
2	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:126170600-126200600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:126172000-126201000	Weak transcription	Fetal Thymus	thymus
5	chr8:126179400-126208800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:126181800-126200600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:126182000-126217600	Weak transcription	Fetal Kidney	kidney
8	chr8:126182400-126201000	Weak transcription	HepG2	liver
9	chr8:126187400-126204000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:126187600-126201000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:126187800-126202400	Weak transcription	HSMM	muscle
12	chr8:126188000-126200600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:126188000-126200800	Weak transcription	A549	lung
14	chr8:126188000-126201000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:126188200-126200600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:126188400-126200600	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:126188600-126201200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:126189000-126201200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr8:126189200-126203600	Weak transcription	Small Intestine	intestine
20	chr8:126189200-126204400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:126190200-126201000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:126190400-126201000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:126190600-126201000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:126192800-126201400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:126193800-126201000	Weak transcription	HUVEC	blood vessel
26	chr8:126194000-126200600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:126194200-126201000	Weak transcription	Left Ventricle	heart
28	chr8:126194200-126201600	Weak transcription	Right Ventricle	heart
29	chr8:126194200-126226000	Weak transcription	Ovary	ovary
30	chr8:126194400-126204000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:126194600-126200600	Weak transcription	Fetal Intestine Large	intestine
32	chr8:126194600-126200800	Weak transcription	Liver	Liver
33	chr8:126195800-126201000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:126196000-126200600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:126196000-126200600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr8:126196000-126200800	Weak transcription	Osteobl	bone
37	chr8:126196200-126200600	Weak transcription	Brain Hippocampus Middle	brain
38	chr8:126196200-126201000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:126197400-126203400	Weak transcription	Stomach Mucosa	stomach
40	chr8:126197600-126201000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:126197800-126200600	Weak transcription	Fetal Intestine Small	intestine
42	chr8:126197800-126201000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:126198800-126200800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr8:126198800-126214000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:126199000-126200600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr8:126199000-126203400	Weak transcription	K562	blood
47	chr8:126199400-126203600	ZNF genes & repeats	GM12878-XiMat	blood
48	chr8:126199600-126200600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr8:126199600-126200800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr8:126199600-126200800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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