Variant report

Variant	rs2304704
Chromosome Location	chr2:190430177-190430178
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190424147..190427932-chr2:190428978..190433809,5	K562	blood:
2	chr2:190429867..190433409-chr2:190445353..190447436,5	K562	blood:
3	chr2:190420297..190422009-chr2:190428355..190430489,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138449	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12466208	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12466217	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12468999	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12478088	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12693541	0.88[JPT][hapmap]
rs2352262	0.88[CEU][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs4145237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57782175	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2304704	COL5A2	cis	parietal	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190417000-190431000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:190417400-190433600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:190421000-190431000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:190421000-190431400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:190424600-190432800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:190424600-190433600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:190424800-190431600	Weak transcription	Psoas Muscle	Psoas
8	chr2:190424800-190433600	Weak transcription	Brain Anterior Caudate	brain
9	chr2:190424800-190435600	Weak transcription	Esophagus	oesophagus
10	chr2:190424800-190441800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:190424800-190444400	Weak transcription	Brain Substantia Nigra	brain
12	chr2:190425000-190430200	Weak transcription	NHDF-Ad	bronchial
13	chr2:190425000-190431800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:190425000-190433600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr2:190425000-190433800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:190425000-190435400	Weak transcription	Right Atrium	heart
17	chr2:190425200-190430800	Weak transcription	NHLF	lung
18	chr2:190425200-190433600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:190425200-190433800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:190425400-190431800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:190426200-190430400	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:190426400-190430800	Strong transcription	Fetal Heart	heart
23	chr2:190426600-190431400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:190426600-190444200	Weak transcription	Brain Angular Gyrus	brain
25	chr2:190426800-190431000	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:190426800-190431000	Weak transcription	Small Intestine	intestine
27	chr2:190426800-190432600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr2:190427000-190433200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:190427400-190431600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:190427800-190430400	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:190427800-190430600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:190427800-190430600	Strong transcription	Fetal Kidney	kidney
33	chr2:190427800-190430800	Strong transcription	Fetal Stomach	stomach
34	chr2:190427800-190431000	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:190427800-190432600	Strong transcription	Fetal Muscle Trunk	muscle
36	chr2:190428000-190432000	Strong transcription	Fetal Muscle Leg	muscle
37	chr2:190428000-190432600	Strong transcription	K562	blood
38	chr2:190428200-190430400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:190428200-190430400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:190428200-190430400	Strong transcription	Rectal Smooth Muscle	rectum
41	chr2:190428200-190431200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:190428200-190431600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr2:190428200-190432000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:190428200-190432000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:190428200-190432400	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr2:190428200-190432600	Strong transcription	Pancreas	Pancrea
47	chr2:190428200-190434600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:190428400-190430200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:190428400-190430200	Strong transcription	Right Ventricle	heart
50	chr2:190428400-190430400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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