Variant report

Variant	rs74128319
Chromosome Location	chr1:174176329-174176330
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174126473..174129407-chr1:174172803..174176660,7	K562	blood:
2	chr1:174040693..174043497-chr1:174175491..174177375,2	K562	blood:
3	chr1:173792385..173795057-chr1:174174691..174177146,2	K562	blood:

Variant related genes	Relation type
ENSG00000117593	Chromatin interaction
ENSG00000152061	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000227373	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs55687343	0.81[AFR][1000 genomes]
rs55773127	0.93[AFR][1000 genomes]
rs56106938	1.00[AFR][1000 genomes]
rs56179605	0.81[AFR][1000 genomes]
rs56204297	0.93[AFR][1000 genomes]
rs56223691	0.93[AFR][1000 genomes]
rs56713956	1.00[AFR][1000 genomes]
rs57774157	1.00[AFR][1000 genomes]
rs58997380	0.81[AFR][1000 genomes]
rs59753012	0.81[AFR][1000 genomes]
rs60717080	1.00[AFR][1000 genomes]
rs60843796	0.81[AFR][1000 genomes]
rs61077309	0.93[AFR][1000 genomes]
rs61288130	0.93[AFR][1000 genomes]
rs74128305	0.81[AFR][1000 genomes]
rs74128306	0.81[AFR][1000 genomes]
rs74128317	1.00[AFR][1000 genomes]
rs74128318	1.00[AFR][1000 genomes]
rs74128320	0.93[AFR][1000 genomes]
rs74128321	0.93[AFR][1000 genomes]
rs74128322	1.00[AFR][1000 genomes]
rs74128323	1.00[AFR][1000 genomes]
rs74128324	1.00[AFR][1000 genomes]
rs74128326	1.00[AFR][1000 genomes]
rs74128329	1.00[AFR][1000 genomes]
rs74128334	0.81[AFR][1000 genomes]
rs74128342	0.81[AFR][1000 genomes]
rs74128343	0.81[AFR][1000 genomes]
rs74128344	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1008314	chr1:174080192-174311023	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv535207	chr1:174080192-174311023	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv1799250	chr1:174119038-174484277	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv1800060	chr1:174132703-174501836	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv465672	chr1:174133251-174469905	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv548194	chr1:174133251-174469905	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv470746	chr1:174150850-174469905	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1001803	chr1:174176164-174367747	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174144000-174178200	Weak transcription	Left Ventricle	heart
2	chr1:174160800-174186600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:174161200-174176600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:174161600-174178600	Weak transcription	Primary B cells from cord blood	blood
5	chr1:174162000-174189600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:174163800-174178200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:174167200-174178400	Weak transcription	Fetal Stomach	stomach
8	chr1:174170800-174178000	Weak transcription	Fetal Intestine Small	intestine
9	chr1:174172200-174179800	ZNF genes & repeats	GM12878-XiMat	blood
10	chr1:174172800-174190600	Weak transcription	Fetal Intestine Large	intestine
11	chr1:174172800-174191000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:174173000-174176400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr1:174173200-174191400	Weak transcription	Brain Anterior Caudate	brain
14	chr1:174173600-174176800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr1:174174000-174186200	Weak transcription	Ovary	ovary
16	chr1:174174200-174180200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:174174200-174200200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:174174400-174176400	Weak transcription	Psoas Muscle	Psoas
19	chr1:174174400-174178600	Weak transcription	Dnd41	blood
20	chr1:174175400-174200200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:174175600-174176600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:174175600-174176600	Enhancers	NHEK	skin
23	chr1:174176000-174176400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:174176000-174176800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr1:174176000-174177000	Enhancers	Fetal Heart	heart
26	chr1:174176000-174179000	Weak transcription	Primary T cells from cord blood	blood
27	chr1:174176000-174179200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr1:174176000-174190800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:174176000-174222400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr1:174176200-174176800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:174176200-174178000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr1:174176200-174188800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:174176200-174191200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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