Variant report

Variant	rs34909049
Chromosome Location	chr11:48022512-48022513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:48017179..48020205-chr11:48021877..48026415,4	K562	blood:
2	chr11:48000322..48003543-chr11:48021769..48024813,4	MCF-7	breast:
3	chr11:48016915..48018555-chr11:48019817..48022552,2	MCF-7	breast:
4	chr11:48017573..48020205-chr11:48021877..48024706,2	K562	blood:
5	chr11:48002272..48005145-chr11:48021590..48026495,6	K562	blood:

Variant related genes	Relation type
ENSG00000149177	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11039370	1.00[AFR][1000 genomes]
rs11039482	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11039510	1.00[AFR][1000 genomes]
rs34814128	1.00[AFR][1000 genomes]
rs34953939	1.00[AFR][1000 genomes]
rs61914724	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1053145	chr11:47967902-48086950	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv870381	chr11:47989434-48142648	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
12	esv3396029	chr11:47993857-48241494	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv528641	chr11:48004369-48043053	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv897327	chr11:48004369-48911660	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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 miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
15	nsv869124	chr11:48014539-48783113	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
16	nsv1051805	chr11:48016488-48378048	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34909049	FNBP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48013200-48023400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:48013200-48025600	Weak transcription	HSMMtube	muscle
3	chr11:48013400-48025200	Weak transcription	Left Ventricle	heart
4	chr11:48013400-48025800	Weak transcription	Fetal Stomach	stomach
5	chr11:48013400-48027200	Weak transcription	Aorta	Aorta
6	chr11:48013600-48023200	Weak transcription	HUVEC	blood vessel
7	chr11:48015200-48022600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:48016400-48023600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr11:48016800-48023000	Enhancers	Fetal Intestine Large	intestine
10	chr11:48017800-48023400	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr11:48017800-48023600	Enhancers	Duodenum Mucosa	Duodenum
12	chr11:48017800-48024000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:48018000-48022600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr11:48018000-48022800	Enhancers	Primary T cells from cord blood	blood
15	chr11:48018000-48022800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr11:48018000-48023000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr11:48018000-48023200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:48018000-48025800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr11:48018200-48022800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr11:48018200-48025800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:48018400-48022600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:48018400-48023200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:48018400-48026200	Weak transcription	Adipose Nuclei	Adipose
24	chr11:48018400-48026800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr11:48018600-48023000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:48018800-48023600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:48018800-48042000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:48019000-48025400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:48019000-48025600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:48019000-48027200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:48019200-48024000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:48019200-48024600	Enhancers	Primary B cells from peripheral blood	blood
33	chr11:48019200-48025200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr11:48019200-48026000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:48019400-48022600	Weak transcription	Spleen	Spleen
36	chr11:48019400-48023000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:48019400-48024200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:48019400-48025600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:48019400-48027400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:48019600-48023000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:48019600-48023000	Weak transcription	Brain Anterior Caudate	brain
42	chr11:48019600-48023200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:48019600-48025600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:48019600-48025800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:48019600-48025800	Weak transcription	Placenta	Placenta
46	chr11:48020000-48027000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr11:48020200-48024000	Enhancers	Fetal Thymus	thymus
48	chr11:48020400-48023000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr11:48020400-48023200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:48020400-48023200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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