Variant report

Variant	rs11235408
Chromosome Location	chr11:71648433-71648434
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71643289..71645495-chr11:71647071..71649029,3	K562	blood:
2	chr11:71638377..71641678-chr11:71642670..71653439,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254469	Chromatin interaction
ENSG00000137522	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10898815	0.83[AFR][1000 genomes]
rs35236991	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4944229	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	esv2758276	chr11:71363639-71657576	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv2759836	chr11:71363639-71657576	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11235408	FAM86C1	cis	Muscle Skeletal	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71641000-71671000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:71641200-71648600	Weak transcription	Placenta	Placenta
3	chr11:71641200-71650000	Weak transcription	Colonic Mucosa	Colon
4	chr11:71641200-71670800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:71641200-71671400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:71641400-71648600	Weak transcription	Primary T cells from cord blood	blood
7	chr11:71641400-71651600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr11:71641400-71652000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:71641400-71658000	Weak transcription	Lung	lung
10	chr11:71641400-71661600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:71641400-71670800	Weak transcription	Esophagus	oesophagus
12	chr11:71641400-71671000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:71641400-71671000	Weak transcription	Fetal Thymus	thymus
14	chr11:71641400-71671400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:71641600-71648600	Weak transcription	Fetal Stomach	stomach
16	chr11:71641600-71648600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:71641600-71648600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:71641600-71648800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:71641600-71649000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:71641600-71654400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:71641600-71654800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:71641600-71656800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:71641600-71658000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:71641600-71659600	Weak transcription	Fetal Kidney	kidney
25	chr11:71641600-71670800	Weak transcription	Spleen	Spleen
26	chr11:71641600-71671400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:71641600-71671600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:71641600-71671600	Weak transcription	Brain Germinal Matrix	brain
29	chr11:71641600-71671600	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:71641600-71673400	Weak transcription	NHLF	lung
31	chr11:71641800-71648600	Weak transcription	Adipose Nuclei	Adipose
32	chr11:71641800-71648600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:71641800-71651600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:71641800-71655800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:71641800-71671600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:71642400-71649000	Weak transcription	Brain Anterior Caudate	brain
37	chr11:71642400-71671000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr11:71642400-71671000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:71642600-71648600	Weak transcription	HSMM	muscle
40	chr11:71642600-71650800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:71642600-71655600	Weak transcription	HMEC	breast
42	chr11:71642600-71671000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:71642600-71671200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:71642800-71650800	Weak transcription	Fetal Heart	heart
45	chr11:71642800-71654000	Weak transcription	Brain Angular Gyrus	brain
46	chr11:71642800-71655800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:71642800-71671200	Weak transcription	Dnd41	blood
48	chr11:71642800-71671400	Weak transcription	Fetal Brain Female	brain
49	chr11:71643000-71651200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr11:71643000-71651600	Weak transcription	Aorta	Aorta

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