Variant report

Variant	rs72701777
Chromosome Location	chr1:168314164-168314165
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168312525..168314328-chr1:168315876..168317472,2	K562	blood:
2	chr1:168302771..168304923-chr1:168313619..168315791,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12085802	0.90[EUR][1000 genomes]
rs12089215	0.91[EUR][1000 genomes]
rs59065645	0.91[EUR][1000 genomes]
rs61521307	1.00[EUR][1000 genomes]
rs6659763	1.00[EUR][1000 genomes]
rs72701770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72701772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72701779	0.81[EUR][1000 genomes]
rs72701780	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72701781	0.81[EUR][1000 genomes]
rs72701783	0.81[EUR][1000 genomes]
rs72701784	0.81[EUR][1000 genomes]
rs7535315	0.91[EUR][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	nsv831825	chr1:168179175-168353062	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002007	chr1:168179463-168375973	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168311600-168314200	Enhancers	Colon Smooth Muscle	Colon
2	chr1:168311800-168314200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:168312000-168317200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:168312000-168317600	Weak transcription	Psoas Muscle	Psoas
5	chr1:168312000-168317800	Weak transcription	Left Ventricle	heart
6	chr1:168312200-168318000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:168312200-168318200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:168312200-168318200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:168312400-168314200	Enhancers	Liver	Liver
10	chr1:168312400-168314400	Enhancers	Fetal Brain Male	brain
11	chr1:168312400-168317200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:168312400-168317200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:168312400-168317400	Weak transcription	Primary B cells from cord blood	blood
14	chr1:168312400-168318200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:168312600-168317200	Weak transcription	Primary T cells from cord blood	blood
16	chr1:168312600-168317400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:168312600-168317400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:168312800-168317000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:168312800-168317000	Weak transcription	Dnd41	blood
20	chr1:168312800-168317200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:168312800-168317200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:168312800-168317200	Weak transcription	K562	blood
23	chr1:168312800-168317800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:168313000-168315200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:168313000-168317000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:168313000-168317200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:168313000-168317200	Weak transcription	Ovary	ovary
28	chr1:168313000-168318200	Weak transcription	Spleen	Spleen
29	chr1:168313200-168315400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:168313200-168315600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:168313200-168317400	Weak transcription	HepG2	liver
32	chr1:168313200-168317600	Weak transcription	Brain Anterior Caudate	brain
33	chr1:168313200-168317600	Weak transcription	Brain Substantia Nigra	brain
34	chr1:168313400-168315000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:168313600-168317400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:168313600-168317800	Weak transcription	Aorta	Aorta
37	chr1:168313800-168314200	Enhancers	Brain Angular Gyrus	brain
38	chr1:168313800-168314200	Enhancers	Rectal Smooth Muscle	rectum
39	chr1:168314000-168314200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr1:168314000-168317400	Weak transcription	Stomach Smooth Muscle	stomach

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