Variant report

Variant	rs678844
Chromosome Location	chr13:30168388-30168389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30093611..30096522-chr13:30167989..30170777,2	MCF-7	breast:
2	chr13:30168290..30169281-chr3:119814085..119814597,2	Hela-S3	cervix:
3	chr13:30086955..30089041-chr13:30166781..30169428,2	MCF-7	breast:
4	chr13:30091097..30092804-chr13:30167943..30169459,2	K562	blood:
5	chr13:30168293..30169921-chr13:31039031..31041940,2	K562	blood:

Variant related genes	Relation type
ENSG00000139514	Chromatin interaction
ENSG00000242622	Chromatin interaction
ENSG00000189403	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1952851	1.00[CEU][hapmap];0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3420380	chr13:30168177-30170725	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30156400-30168400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr13:30156800-30168400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr13:30157200-30168400	Weak transcription	Brain Germinal Matrix	brain
4	chr13:30157800-30168400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr13:30157800-30168400	Weak transcription	Small Intestine	intestine
6	chr13:30157800-30168600	Weak transcription	Ovary	ovary
7	chr13:30158000-30168600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr13:30158200-30168400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr13:30160000-30168400	Weak transcription	Psoas Muscle	Psoas
10	chr13:30162000-30168400	Weak transcription	Aorta	Aorta
11	chr13:30162200-30168400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr13:30164000-30168400	Weak transcription	Fetal Stomach	stomach
13	chr13:30164000-30168600	Weak transcription	Right Atrium	heart
14	chr13:30164000-30168600	Weak transcription	Thymus	Thymus
15	chr13:30164400-30168400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr13:30164400-30168400	Weak transcription	Brain Hippocampus Middle	brain
17	chr13:30164400-30168400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr13:30164400-30168600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr13:30164800-30168400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr13:30164800-30168400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr13:30164800-30168400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr13:30164800-30168400	Weak transcription	Fetal Muscle Leg	muscle
23	chr13:30164800-30168400	Weak transcription	Gastric	stomach
24	chr13:30165400-30168600	Transcr. at gene 5' and 3'	NHEK	skin
25	chr13:30166800-30168400	Weak transcription	NHLF	lung
26	chr13:30166800-30169000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:30167000-30168400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr13:30167000-30168400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr13:30167200-30168400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr13:30167200-30168400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr13:30167200-30168400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:30167200-30168400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr13:30167200-30168400	Enhancers	Brain Substantia Nigra	brain
34	chr13:30167200-30168400	Weak transcription	Lung	lung
35	chr13:30167200-30168600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:30167200-30168600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr13:30167400-30168600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr13:30167400-30170400	Active TSS	H1 Cell Line	embryonic stem cell
39	chr13:30167400-30170400	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr13:30167600-30168400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:30167600-30168400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr13:30167600-30168400	Weak transcription	Esophagus	oesophagus
43	chr13:30167600-30168400	Weak transcription	Left Ventricle	heart
44	chr13:30167600-30168400	Weak transcription	Pancreas	Pancrea
45	chr13:30167600-30168400	Flanking Active TSS	HepG2	liver
46	chr13:30167600-30168600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr13:30167600-30168600	Enhancers	Fetal Heart	heart
48	chr13:30167600-30168600	Flanking Active TSS	Dnd41	blood
49	chr13:30167600-30168800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr13:30167600-30168800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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