Variant report

Variant	rs7514164
Chromosome Location	chr1:9812893-9812894
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9777680..9780404-chr1:9811949..9813485,2	K562	blood:

Variant related genes	Relation type
ENSG00000171608	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12059243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12072320	0.87[AMR][1000 genomes]
rs12083192	0.83[AFR][1000 genomes]
rs12083800	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12084163	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12087408	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12092457	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12094930	0.87[AMR][1000 genomes]
rs12096905	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12354258	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12354385	0.95[AFR][1000 genomes]
rs6658971	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6663532	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9750600-9813000	Weak transcription	Right Atrium	heart
2	chr1:9781200-9813200	Strong transcription	Stomach Smooth Muscle	stomach
3	chr1:9784000-9815400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:9784200-9815800	Strong transcription	Fetal Intestine Small	intestine
5	chr1:9786400-9814000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:9786600-9815200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:9786800-9814000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:9787000-9813000	Weak transcription	Fetal Heart	heart
9	chr1:9787600-9813200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr1:9787600-9815200	Strong transcription	Duodenum Mucosa	Duodenum
11	chr1:9789800-9815400	Strong transcription	Fetal Thymus	thymus
12	chr1:9789800-9815800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:9790600-9815400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:9791600-9814200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr1:9791600-9816000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:9792000-9815600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:9793400-9813200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:9793800-9815200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:9794000-9815600	Strong transcription	Fetal Stomach	stomach
20	chr1:9794200-9815600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:9794200-9815800	Strong transcription	Thymus	Thymus
22	chr1:9797600-9814400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:9798200-9815600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:9798200-9816000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:9798600-9815400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:9798600-9815600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr1:9799400-9815600	Strong transcription	Dnd41	blood
28	chr1:9800000-9815200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:9800200-9815400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:9800400-9813400	Strong transcription	Colonic Mucosa	Colon
31	chr1:9800600-9821600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr1:9801000-9815800	Weak transcription	Psoas Muscle	Psoas
33	chr1:9801200-9837800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr1:9801400-9854200	Weak transcription	Fetal Kidney	kidney
35	chr1:9801600-9813000	Weak transcription	K562	blood
36	chr1:9804400-9813000	Weak transcription	A549	lung
37	chr1:9804400-9836600	Weak transcription	Small Intestine	intestine
38	chr1:9804600-9836600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr1:9804800-9815600	Weak transcription	HUVEC	blood vessel
40	chr1:9805000-9813200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:9806000-9815600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:9806400-9813400	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:9806400-9815400	Strong transcription	Fetal Intestine Large	intestine
44	chr1:9806400-9825800	Weak transcription	HSMMtube	muscle
45	chr1:9806600-9814000	Strong transcription	Brain Anterior Caudate	brain
46	chr1:9806800-9819000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:9807600-9816200	Strong transcription	Primary T cells from cord blood	blood
48	chr1:9808000-9814600	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:9808000-9815000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:9808000-9815400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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