Variant report

Variant	rs7699875
Chromosome Location	chr4:22488762-22488763
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:22487490..22489243-chr4:22491775..22493390,2	K562	blood:
2	chr4:22488399..22490950-chr4:22493521..22495053,2	MCF-7	breast:
3	chr4:22487743..22489336-chr4:22491654..22493275,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs3937747	0.80[AMR][1000 genomes]
rs4391016	0.83[AFR][1000 genomes]
rs4697016	0.91[CEU][hapmap]
rs59158628	0.81[ASN][1000 genomes]
rs6822459	1.00[JPT][hapmap]
rs6826101	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838873	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv878752	chr4:22414023-22501043	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer 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
rs7699875	ZCCHC4	cis	cerebellum	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22450400-22493200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:22462000-22493200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:22475000-22489400	Weak transcription	Lung	lung
4	chr4:22477800-22489000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:22482200-22488800	Enhancers	HMEC	breast
6	chr4:22484200-22488800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:22484200-22488800	Enhancers	NH-A	brain
8	chr4:22484200-22489400	Enhancers	HSMMtube	muscle
9	chr4:22484200-22490400	Enhancers	Fetal Muscle Leg	muscle
10	chr4:22484400-22489000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:22484600-22489400	Enhancers	Fetal Lung	lung
12	chr4:22484800-22489000	Weak transcription	Right Atrium	heart
13	chr4:22484800-22492400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:22484800-22493000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:22484800-22498400	Weak transcription	Gastric	stomach
16	chr4:22485000-22489000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:22485000-22490200	Enhancers	Colon Smooth Muscle	Colon
18	chr4:22485000-22492400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr4:22485000-22506000	Weak transcription	Esophagus	oesophagus
20	chr4:22485200-22489400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr4:22485400-22492400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:22485600-22489000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:22485600-22489600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr4:22485600-22492400	Weak transcription	Liver	Liver
25	chr4:22485600-22493200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:22485600-22501400	Weak transcription	Hela-S3	cervix
27	chr4:22485600-22502000	Weak transcription	A549	lung
28	chr4:22485800-22491600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr4:22486000-22489200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:22486200-22489400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:22486200-22489400	Enhancers	Fetal Stomach	stomach
32	chr4:22486400-22500600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:22486600-22488800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:22486600-22489000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:22486600-22489600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:22486600-22492200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:22486600-22492200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:22486600-22492400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr4:22486800-22488800	Enhancers	NHEK	skin
40	chr4:22486800-22489000	Weak transcription	Fetal Brain Male	brain
41	chr4:22486800-22490200	Enhancers	Left Ventricle	heart
42	chr4:22486800-22490200	Enhancers	Psoas Muscle	Psoas
43	chr4:22486800-22492400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:22487000-22488800	Enhancers	NHLF	lung
45	chr4:22487000-22489000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr4:22487000-22489600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:22487200-22490200	Enhancers	Fetal Heart	heart
48	chr4:22487200-22490200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr4:22487400-22488800	Enhancers	Brain Germinal Matrix	brain
50	chr4:22487400-22489800	Enhancers	Rectal Smooth Muscle	rectum

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