Variant report

Variant	rs2067537
Chromosome Location	chr7:105524649-105524650
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:105513448..105515426-chr7:105522353..105525334,2	MCF-7	breast:
2	chr7:105513806..105516596-chr7:105523378..105525448,2	K562	blood:
3	chr7:105508618..105511146-chr7:105522403..105524816,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17357322	0.85[EUR][1000 genomes]
rs17357858	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];0.83[ASN][1000 genomes]
rs193837	1.00[ASW][hapmap]
rs212438	0.85[MEX][hapmap]
rs212439	0.85[MEX][hapmap]

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	nsv1027213	chr7:105438610-106022869	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv464669	chr7:105504201-105533735	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv608070	chr7:105504201-105533735	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2067537	FHL1	trans	lymphoblastoid	seeQTL
rs2067537	ALKBH4	cis	cerebellum	SCAN
rs2067537	THAP5	cis	cerebellum	SCAN
rs2067537	ORAI2	cis	cerebellum	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105518000-105526000	Weak transcription	Small Intestine	intestine
2	chr7:105518400-105562800	Weak transcription	Aorta	Aorta
3	chr7:105518600-105525600	Weak transcription	Left Ventricle	heart
4	chr7:105518800-105530800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:105518800-105548200	Weak transcription	Right Atrium	heart
6	chr7:105519000-105532400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:105519000-105542600	Weak transcription	A549	lung
8	chr7:105519400-105525400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:105519400-105532400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:105519800-105525600	Weak transcription	Brain Anterior Caudate	brain
11	chr7:105519800-105528200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:105519800-105550600	Weak transcription	NHLF	lung
13	chr7:105520000-105525200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:105520000-105525400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:105520000-105525400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:105520000-105525400	Weak transcription	Fetal Stomach	stomach
17	chr7:105520000-105525600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:105520000-105525800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:105520000-105528200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:105520000-105528200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:105520000-105531000	Weak transcription	Fetal Intestine Large	intestine
22	chr7:105520000-105535400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:105520000-105545600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:105520000-105549600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:105520000-105549600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:105520200-105525600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:105520200-105525600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:105520200-105528200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:105520200-105550400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:105520400-105525200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr7:105520400-105525400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr7:105520400-105525400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:105520600-105525600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:105520800-105525400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr7:105521400-105530800	Weak transcription	NHDF-Ad	bronchial
36	chr7:105521600-105525600	Weak transcription	Fetal Muscle Leg	muscle
37	chr7:105521600-105525800	Weak transcription	Fetal Brain Female	brain
38	chr7:105521600-105530200	Weak transcription	NHEK	skin
39	chr7:105521800-105525600	Weak transcription	Fetal Brain Male	brain
40	chr7:105521800-105527600	Weak transcription	Pancreas	Pancrea
41	chr7:105521800-105527600	Weak transcription	Stomach Mucosa	stomach
42	chr7:105521800-105531000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:105522000-105531000	Weak transcription	Liver	Liver
44	chr7:105522000-105537200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr7:105522200-105525200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr7:105522200-105525200	Weak transcription	Fetal Intestine Small	intestine
47	chr7:105522200-105525400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:105522200-105525400	Weak transcription	Fetal Heart	heart
49	chr7:105522200-105527600	Weak transcription	Colon Smooth Muscle	Colon
50	chr7:105522200-105528200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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