Variant report

Variant	rs7602037
Chromosome Location	chr2:172817794-172817795
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:172817785-172817808	K562	blood:	n/a	n/a
2	TEAD4	chr2:172817584-172817982	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172814950..172819995-chr2:172966096..172969167,6	MCF-7	breast:
2	chr2:172816856..172818552-chr2:172833224..172835365,2	K562	blood:
3	chr2:172817081..172818688-chr2:172949314..172950940,2	MCF-7	breast:
4	chr2:172815591..172817985-chr2:172954358..172957098,2	MCF-7	breast:
5	chr2:172816461..172819340-chr2:172820914..172822537,2	K562	blood:
6	chr2:172816237..172818106-chr2:172823230..172825687,2	K562	blood:

No data

Variant related genes	Relation type
HAT1	TF binding region
ENSG00000115844	Chromatin interaction
ENSG00000236651	Chromatin interaction
ENSG00000144355	Chromatin interaction
ENSG00000128708	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10165126	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10166548	0.85[AMR][1000 genomes]
rs10174055	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10201430	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10202823	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13004237	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13030911	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2165934	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35256122	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62182433	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6433319	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6727017	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6731562	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6750058	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6752812	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7563971	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7564089	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7581072	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[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	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs7602037	AC068039.4	cis	Skin Sun Exposed Lower leg	GTEx
rs7602037	AC068039.4	cis	Stomach	GTEx
rs7602037	AC068039.4	cis	Adipose Subcutaneous	GTEx
rs7602037	SLC25A12	Cis_1M	lymphoblastoid	RTeQTL
rs7602037	SLC25A12	cis	Whole Blood	GTEx
rs7602037	AC068039.4	cis	Thyroid	GTEx
rs7602037	AC068039.4	cis	lung	GTEx
rs7602037	AC068039.4	cis	Nerve Tibial	GTEx
rs7602037	AC068039.4	cis	Heart Left Ventricle	GTEx
rs7602037	AC068039.4	cis	Whole Blood	GTEx
rs7602037	AC068039.4	cis	Muscle Skeletal	GTEx
rs7602037	AC068039.4	cis	Esophagus Muscularis	GTEx
rs7602037	AC068039.4	cis	Esophagus Mucosa	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172779800-172828400	Weak transcription	Aorta	Aorta
2	chr2:172780000-172829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:172780200-172822200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:172780200-172840400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:172780400-172820600	Weak transcription	Brain Angular Gyrus	brain
6	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:172780600-172820600	Weak transcription	Brain Anterior Caudate	brain
8	chr2:172780600-172822200	Weak transcription	Liver	Liver
9	chr2:172780600-172822200	Weak transcription	Fetal Kidney	kidney
10	chr2:172780600-172847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
12	chr2:172781400-172822000	Weak transcription	HUVEC	blood vessel
13	chr2:172783600-172851000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:172785400-172822200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:172785400-172822400	Weak transcription	Placenta	Placenta
16	chr2:172785800-172822200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:172787800-172822200	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:172790400-172825200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:172796000-172855200	Weak transcription	Gastric	stomach
20	chr2:172796800-172820600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:172796800-172832200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:172797000-172822200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:172797000-172822200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:172798200-172822200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:172798200-172822600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:172798400-172820600	Weak transcription	Brain Germinal Matrix	brain
27	chr2:172805000-172822200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:172805400-172822000	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:172806400-172822400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:172807400-172845400	Weak transcription	Spleen	Spleen
31	chr2:172807600-172822400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:172808000-172847200	Weak transcription	Fetal Brain Female	brain
33	chr2:172808000-172849400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:172809000-172822600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:172809800-172837800	Weak transcription	Esophagus	oesophagus
36	chr2:172810000-172819200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:172810000-172862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:172810200-172822200	Weak transcription	Thymus	Thymus
39	chr2:172810400-172825400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:172811400-172822200	Weak transcription	Right Ventricle	heart
41	chr2:172811400-172826000	Weak transcription	Hela-S3	cervix
42	chr2:172811400-172846200	Weak transcription	Brain Substantia Nigra	brain
43	chr2:172811600-172821600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:172811600-172822000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:172811600-172823600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr2:172811800-172819200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr2:172811800-172819200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:172811800-172819200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:172811800-172819200	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:172811800-172819800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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