Variant report

Variant	rs4846310
Chromosome Location	chr1:220472295-220472296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220471708..220473237-chr1:220473384..220475197,2	K562	blood:
2	chr1:220472146..220476352-chr1:220476366..220479931,4	K562	blood:
3	chr1:220444172..220447229-chr1:220471859..220475083,5	K562	blood:
4	chr1:220466641..220469132-chr1:220471949..220474218,2	K562	blood:

Variant related genes	Relation type
ENSG00000118873	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10495146	0.82[CHD][hapmap]
rs12568631	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1397960	0.82[CHD][hapmap]
rs2667965	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4272630	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4846314	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4846626	0.82[EUR][1000 genomes]
rs6541132	0.84[CHB][hapmap]
rs6683491	0.82[CHD][hapmap]
rs6702901	0.82[ASN][1000 genomes]
rs7516304	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];0.83[LWK][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7532002	0.82[EUR][1000 genomes]
rs7540014	0.84[CHD][hapmap]
rs907416	0.85[CHD][hapmap]

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	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4846310	COL4A1	trans	lymphoblastoid	seeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220464200-220473600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:220464600-220473800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:220465200-220472600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:220468400-220473600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:220468600-220473400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:220468600-220473400	Weak transcription	NH-A	brain
7	chr1:220468600-220473600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:220468600-220473600	Weak transcription	Fetal Stomach	stomach
9	chr1:220469200-220473400	Weak transcription	NHDF-Ad	bronchial
10	chr1:220470800-220473400	Weak transcription	Osteobl	bone
11	chr1:220470800-220473600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:220471200-220472800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:220471200-220473200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:220471200-220473800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:220471400-220473000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:220471400-220473600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:220471600-220472400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:220471600-220472600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:220471600-220472600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:220471600-220472600	Enhancers	Brain Germinal Matrix	brain
21	chr1:220471600-220473800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:220471600-220474000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:220471800-220472600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:220471800-220472600	Enhancers	Adipose Nuclei	Adipose
25	chr1:220471800-220472800	Enhancers	Fetal Brain Male	brain
26	chr1:220472000-220472600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:220472000-220472600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:220472000-220472800	Enhancers	Fetal Brain Female	brain
29	chr1:220472000-220473600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:220472200-220472600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:220472200-220472600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:220472200-220472600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:220472200-220472600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:220472200-220472800	Enhancers	K562	blood
35	chr1:220472200-220473400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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