Variant report

Variant	rs34317779
Chromosome Location	chr4:166249893-166249894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:166127386..166130072-chr4:166247171..166250406,6	MCF-7	breast:
2	chr4:166127276..166130366-chr4:166247405..166250443,3	K562	blood:
3	chr4:166126308..166130366-chr4:166247405..166251145,5	K562	blood:
4	chr4:166249129..166252121-chr4:166265324..166266921,2	K562	blood:

Variant related genes	Relation type
ENSG00000170088	Chromatin interaction
ENSG00000109466	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13353819	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28678592	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3890624	0.82[EUR][1000 genomes]
rs4588420	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55672136	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56022310	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56058314	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56245360	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56326646	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57162477	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67414450	0.84[EUR][1000 genomes]
rs72701608	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72701615	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72701618	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681175	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs934815	0.89[EUR][1000 genomes];0.93[ASN][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	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv3422247	chr4:166247552-166250050	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34317779	KLHL2	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166247000-166251600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:166247400-166250400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:166247600-166250000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:166247600-166250400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr4:166247600-166250400	Active TSS	Brain Substantia Nigra	brain
6	chr4:166247600-166250400	Active TSS	Right Atrium	heart
7	chr4:166247600-166251400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:166247600-166251600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr4:166247600-166251800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:166247800-166250000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:166247800-166250000	Active TSS	Psoas Muscle	Psoas
12	chr4:166247800-166250200	Active TSS	Duodenum Mucosa	Duodenum
13	chr4:166247800-166250200	Active TSS	K562	blood
14	chr4:166247800-166250400	Active TSS	Aorta	Aorta
15	chr4:166247800-166250400	Active TSS	Fetal Muscle Trunk	muscle
16	chr4:166247800-166250400	Active TSS	Ovary	ovary
17	chr4:166247800-166250400	Active TSS	HSMM	muscle
18	chr4:166247800-166250600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr4:166247800-166250800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr4:166247800-166251000	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr4:166247800-166251000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:166247800-166251000	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr4:166247800-166251000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:166247800-166251000	Active TSS	Fetal Intestine Small	intestine
25	chr4:166247800-166251200	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr4:166247800-166251200	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr4:166247800-166251400	Active TSS	H1 Cell Line	embryonic stem cell
28	chr4:166247800-166251400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:166247800-166251400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:166247800-166251400	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr4:166247800-166251400	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr4:166247800-166251400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:166247800-166251400	Active TSS	GM12878-XiMat	blood
34	chr4:166247800-166251400	Active TSS	NHDF-Ad	bronchial
35	chr4:166247800-166251600	Active TSS	Fetal Intestine Large	intestine
36	chr4:166247800-166251800	Active TSS	HSMMtube	muscle
37	chr4:166247800-166253600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:166248000-166250000	Active TSS	Gastric	stomach
39	chr4:166248000-166250000	Active TSS	Dnd41	blood
40	chr4:166248000-166250200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:166248000-166250200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:166248000-166250400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:166248000-166250400	Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr4:166248000-166250400	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr4:166248000-166250600	Active TSS	Colonic Mucosa	Colon
46	chr4:166248000-166251000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:166248000-166251000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:166248000-166251000	Active TSS	NHEK	skin
49	chr4:166248000-166251000	Active TSS	NHLF	lung
50	chr4:166248000-166251200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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